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"Café-au-lait spots" caused by vitiligo in McCune-Albright syndrome

artículo científico publicado en 2000

2009 Santa Fe Bone symposium

scientific article published on January 2010

99mTc-Pyrophosphate Bone Imaging in Osteopoikilosis, Osteopathia Striata, and Melorheostosis ⬇️

artículo científico publicado el 1 de mayo de 1978

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

scientific article published on 01 September 2000

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia

artículo científico publicado en 1988

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

artículo científico publicado en 2016

Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia

artículo científico publicado en 1996

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy

scientific article published on 01 September 2007

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study

artículo científico publicado en 2019

Absence of paramyxo virus transcripts in juvenile Paget bone disease

artículo científico publicado en 1996

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure

article

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

artículo científico publicado en 2015

Adult hypophosphatasia dominant inheritance in a large kindred

artículo científico publicado en 1978

Adult hypophosphatasia treated with teriparatide

artículo científico publicado en 2007

Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred

artículo científico publicado en 1982

Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature

artículo científico publicado el 1 de septiembre de 1979

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

artículo científico publicado en 2010

Alkaline Phosphatase and Hypophosphatasia

artículo científico publicado en 2015

Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

artículo científico publicado en 1999

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

artículo científico publicado en 1995

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

artículo científico publicado en 2005

Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

artículo científico publicado en 1989

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

artículo científico publicado en 2015

Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial

artículo científico publicado en 2018

Asfotase alfa therapy for children with hypophosphatasia

artículo científico publicado en 2016

Assessment of calcitriol and inorganic phosphate therapy before cure of oncogenous osteomalacia by resection of a mixed mesenchymal tumor

scientific article published on 01 January 1988

Atypical subtrochanteric and diaphyseal femoral fractures: Report of a task force of the American Society for Bone and Mineral Research

article

Atypical subtrochanteric and diaphyseal femoral fractures: report of a task force of the American Society for Bone and Mineral Research

artículo científico publicado en 2010

Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research

artículo científico publicado en 2013

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

artículo científico publicado en 2016

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

artículo científico publicado en 2008

Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son.

artículo científico publicado en 1981

Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia

scientific article published on 01 May 1998

Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome

artículo científico publicado en 1981

Bisphosphonate-induced osteopetrosis

artículo científico publicado en 2003

Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases

artículo científico publicado en 2008

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

scientific article published on 28 August 2019

Burosumab Therapy in Children with X-Linked Hypophosphatemia

artículo científico publicado en 2018

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

scientific article published on 16 May 2019

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

artículo científico publicado en 2010

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

artículo científico publicado en 2011

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

artículo científico publicado en 2014

Calcinosis Universalis Complicating Juvenile Dermatomyositis: Resolution During Probenecid Therapy1 ⬇️

artículo científico publicado el 1 de noviembre de 1997

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

artículo científico publicado en 1995

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis

artículo científico publicado en 1996

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand ⬇️

artículo científico publicado el 1 de mayo de 2011

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

artículo científico publicado en 1983

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

artículo científico publicado en 1985

Cementum and dentin in hypophosphatasia

artículo científico publicado en 2005

Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature

artículo científico publicado en 1989

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

artículo científico publicado en 2009

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

artículo científico publicado en 2008

Coalescing Expansile Skeletal Disease: Delineation Of An Extraordinary Osteopathy Involving The IFITM5 Mutation Of Osteogenesis Imperfecta Type V

scientific article published on 24 December 2020

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

artículo científico publicado en 2009

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

artículo científico publicado en 2015

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

artículo científico publicado en 1996

Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

artículo científico publicado en 1996

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

artículo científico publicado en 2007

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

artículo científico publicado en 2000

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

artículo científico publicado en 2002

Differing Lumbar Vertebral Mineralization Rates in Ambulatory Pediatric Patients with Osteogenesis Imperfecta ⬇️

artículo científico publicado el 1 de enero de 1998

Dose response of bone-targeted enzyme replacement for murine hypophosphatasia ⬇️

artículo científico publicado el 31 de marzo de 2011

Doubling skeletal mass during adult life: The syndrome of diffuse osteosclerosis after intravenous drug abuse

article

Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children ⬇️

artículo científico publicado el 16 de marzo de 2012

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

artículo científico publicado en 2010

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

artículo científico publicado en 2020

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial

scientific article published on 09 January 2019

Elevated plasma 4-pyridoxic acid in renal insufficiency

artículo científico publicado en 2002

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

artículo científico publicado en 2010

Enzyme replacement prevents enamel defects in hypophosphatasia mice ⬇️

artículo científico publicado el 1 de agosto de 2012

Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients

artículo científico publicado en 1984

Enzyme replacement therapy for murine hypophosphatasia

artículo científico publicado en 2008

Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia

artículo científico publicado en 2011

Enzyme-replacement therapy in life-threatening hypophosphatasia.

artículo científico publicado en 2012

Erratum: Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr Radiol (1997) 27: 436-441) ⬇️

artículo científico publicado el 1 de noviembre de 1997

Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study

artículo científico publicado en 1993

Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease

artículo científico publicado en 2000

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

artículo científico publicado en 1997

Extraskeletal osteoclastomas responsive to dexamethasone treatment in Paget bone disease

artículo científico publicado en 1997

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

artículo científico publicado en 2002

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1 ⬇️

artículo científico publicado el 1 de marzo de 2012

Fifty-year follow-up of hypophosphatasia

artículo científico publicado el 1 de noviembre de 1981

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia

artículo científico publicado en 2018

Genetic Approaches to Metabolic Bone Diseases

article

Genetics of Skeletal Disorders

artículo científico publicado en 2020

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

artículo científico publicado en 2017

Growth Curves for Children with X-linked Hypophosphatemia

artículo científico publicado en 2020

Healing of lytic Paget bone disease with diphosphonate therapy

scientific article published on 01 March 1980

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

scientific article published on 18 March 2020

Hepatitis C-Associated Osteosclerosis: Late Onset after Blood Transfusion in an Elderly Woman ⬇️

artículo científico publicado el 1 de enero de 1998

Heritable disorders of the RANKL/OPG/RANK signaling pathway

artículo científico publicado en 2004

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

artículo científico publicado en 2020

High-bone-mass disease and LRP5.

artículo científico publicado en 2004

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

artículo científico publicado en 2006

Hypercalciuria in osteogenesis imperfecta: a follow-up study to assess renal effects

artículo científico publicado en 1995

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia

artículo científico publicado en 2020

Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred.

artículo científico publicado en 1980

Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology

artículo científico publicado en 2018

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center

artículo científico publicado en 2016

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) ⬇️

artículo científico publicado el 1 de octubre de 2011

Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity

scientific article published on 01 June 1996

Hypophosphatasia: molecular diagnosis of Rathbun's original case

artículo científico publicado en 2001

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

artículo científico publicado en 2015

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

scientific article published on 13 December 2019

Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome

artículo científico publicado en 1990

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a <3.5 Megabase Pair Region on Chromosome 19q13.3

artículo científico publicado en 2010

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus

artículo científico publicado en 2016

Idiopathic Multicentric Osteolysis

article

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

artículo científico publicado en 2004

Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

artículo científico publicado en 1990

Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis

scientific article published on 01 February 2000

Infantile hypophosphatasia fibroblasts proliferate normally in culture: evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation

artículo científico publicado en 1987

Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture

artículo científico publicado en 1987

Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease

artículo científico publicado en 1982

Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase

artículo científico publicado en 1986

Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

scientific article published on 01 November 1995

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

artículo científico publicado en 2007

Intermittent radiographic changes of rickets without defective trabecular bone mineralization in a case of spondylometaphyseal dysplasia

artículo científico publicado en 1986

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

scientific article published on 13 April 2020

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation ⬇️

artículo científico publicado el 1 de junio de 2013

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

artículo científico publicado en 2014

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

artículo científico publicado en 2007

Juvenile paget disease: Life-long features of a mildly affected young woman

article

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

artículo científico publicado en 2015

Linkage Studies of a Missouri Kindred with Autosomal Dominant Spondyloepimetaphyseal Dysplasia (SEMD) Indicate Genetic Heterogeneity

artículo científico publicado en 1997

Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families

artículo científico publicado en 1990

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

artículo científico publicado en 1995

List of Contributors

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27

artículo científico publicado en 1998

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

artículo científico publicado en 1999

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood

artículo científico publicado en 2006

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

artículo científico publicado en 2005

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation.

artículo científico publicado en 2019

Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition

artículo científico publicado en 1986

Management and prevention of vitamin D deficiency rickets in captive-born juvenile chimpanzees (Pan troglodytes).

artículo científico publicado en 2000

Management of femoral fractures and pseudofractures in adult hypophosphatasia

artículo científico publicado en 1986

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

artículo científico publicado en 2006

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

artículo científico publicado en 2005

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies

artículo científico publicado en 1990

Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism

artículo científico publicado en 1985

Marrow cell transplantation for infantile hypophosphatasia

artículo científico publicado en 2003

Mast-cell proliferation in postmenopausal osteoporosis

artículo científico publicado en 1983

Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals ⬇️

artículo científico publicado el 1 de diciembre de 1997

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

artículo científico publicado en 2017

Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864

artículo científico publicado en 1997

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

scientific article published on 01 October 1999

Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis.

artículo científico publicado en 1986

Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature

artículo científico publicado en 1981

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

artículo científico publicado en 2014

Mutational analysis of PHEX gene in X-linked hypophosphatemia

artículo científico publicado en 1998

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

artículo científico publicado en 2012

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

artículo científico publicado en 2019

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

scientific article published on 14 July 2015

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin

artículo científico publicado en 2004

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

scientific article published on 11 May 2019

New markers for linkage analysis of X-linked hypophosphataemic rickets

scientific article published on 01 July 1993

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

scientific article published on 28 February 2019

Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review)

artículo científico publicado en 2021

Normal cortical bone mass in patients after long term coumadin therapy

artículo científico publicado en 1982

OR13-2 Burosumab Resulted in Greater Improvement in Rickets Than Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH).

artículo científico publicado en 2019

OR13-4 Safety Profile of Asfotase Alfa Treatment of Patients with Hypophosphatasia: A Pooled Analysis.

artículo científico publicado en 2019

Occipital horn syndrome. Additional radiographic findings in two new cases

artículo científico publicado el 1 de enero de 1992

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

artículo científico publicado en 2004

Osteolytic Paget's bone disease in a young man. Rapid healing with human calcitonin therapy

artículo científico publicado en 1985

Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata

scientific article published on 01 January 1980

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

artículo científico publicado en 1980

Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia

artículo científico publicado en 2016

Osteoprotegerin deficiency and juvenile Paget's disease

artículo científico publicado en 2002

Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis ⬇️

artículo científico publicado el 12 de abril de 2013

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets

artículo científico publicado en 2015

Paget bone disease involving young adults in 3 generations of a Korean family.

artículo científico publicado en 1997

Paget bone disease: radiologic documentation of healing with human calcitonin therapy

scientific article published on 01 July 1980

Painful diffuse osteosclerosis after intravenous drug abuse

artículo científico publicado en 1992

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

artículo científico publicado en 2014

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia

artículo científico publicado en 2002

Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.

artículo científico publicado en 2015

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

artículo científico publicado en 2020

Pharmacodynamics of Asfotase Alfa in Adults With Pediatric-Onset Hypophosphatasia

artículo científico publicado en 2020

Polycystic bone disease

scientific article published on 01 February 2000

Polycystic bone disease: A new, autosomal dominant disorder

artículo científico publicado en 1999

Postmenopausal osteoporosis. A heterogeneous disorder as assessed by histomorphometric analysis of Iliac crest bone from untreated patients

artículo científico publicado en 1982

Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism

artículo científico publicado en 2014

Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin

artículo científico publicado en 2001

Progressive diaphyseal dysplasia (Engelmann disease(: scintigraphic-radiographic-clinical correlations

artículo científico publicado en 1981

Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form.

artículo científico publicado en 1980

Pseudo-(tumor-induced) rickets

artículo científico publicado en 2001

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

artículo científico publicado en 1995

Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts

artículo científico publicado en 1990

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

artículo científico publicado en 2007

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

artículo científico publicado en 2016

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

artículo científico publicado en 2014

Recovery from skeletal fluorosis (an enigmatic, American case)

scientific article published on 01 January 2007

Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

scientific article published on 10 June 2015

Response to: A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

article

SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome

scientific article published on 30 April 2019

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

scientific article published on 02 August 2018

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy ⬇️

artículo científico publicado el 1 de febrero de 2013

Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia

artículo científico publicado el 1 de septiembre de 1992

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

artículo científico publicado en 2016

Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

artículo científico publicado en 2005

Skeletal fluorosis and instant tea.

artículo científico publicado en 2005

Skeletal fluorosis from brewed tea.

artículo científico publicado en 2011

Skeletal fluorosis from instant tea.

artículo científico publicado en 2008

Skeletal fluorosis in a resettled refugee from Kakuma refugee camp

scientific article published on 01 January 2019

Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.

artículo científico publicado en 1993

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects

artículo científico publicado en 2007

Stereospecific inhibition of alkaline phosphatase by L-tetramisole prevents in vitro cartilage calcification.

artículo científico publicado en 1980

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

scientific article published on 01 January 2020

Systemic mastocytosis

scientific article published on 01 November 1984

Systemic mastocytosis associated with generalized osteopenia. Histopathological characterization of the skeletal lesion using undecalcified bone from two patients.

artículo científico publicado en 1981

Tibial bowing exacerbated by partial premature epiphyseal closure in sex-linked hypophosphatemic rickets

artículo científico publicado en 1987

Transcription map of Xq27: candidates for several X-linked diseases

artículo científico publicado en 1999

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

artículo científico publicado en 2018

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale

artículo científico publicado en 2018

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

artículo científico publicado en 2012

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study)

scientific article published on 07 January 2020

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

artículo científico publicado en 2004

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene

scientific article published on 01 August 2001

X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features

artículo científico publicado en 1989

X-linked hypophosphatemia: Normal renal function despite medullary nephrocalcinosis 25 years after transient vitamin D2-induced renal azotemia ⬇️

artículo científico publicado el 1 de diciembre de 1997

X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults

artículo científico publicado en 1989

X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry

article

X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature

artículo científico publicado en 1999

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology

artículo científico publicado en 2020

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation

artículo científico publicado en 1997

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia ⬇️

artículo científico publicado el 1 de mayo de 2012

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