Lista de obras -

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

artículo científico publicado en 2017

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient

artículo científico publicado en 2010

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

artículo científico publicado en 2015

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

artículo científico publicado en 2005

Case 1: An infant with heart failure (case presentation)

scientific article published on 01 January 2009

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

artículo científico publicado el 1 de noviembre de 2010

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

artículo científico publicado en 2011

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

artículo científico publicado en 2020

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

artículo científico publicado en 2013

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP

artículo científico publicado en 2018

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

scientific journal article

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

artículo científico publicado en 2011

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

artículo científico publicado en 2018

Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation

artículo científico publicado en 2014

Expression of NPP1 is regulated during atheromatous plaque calcification

artículo científico publicado en 2011

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1 ⬇️

artículo científico publicado el 25 de junio de 2011

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

artículo científico publicado en 2011

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

artículo científico publicado en 2005

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

artículo científico publicado en 2009

Generalized arterial calcification of infancy: two siblings with prolonged survival

artículo científico publicado en 2005

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

artículo científico publicado en 2020

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel

artículo científico publicado en 2011

Hereditary Disorders of Cardiovascular Calcification

artículo científico publicado en 2020

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

artículo científico publicado en 2008

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

artículo científico publicado en 2009

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

artículo científico publicado en 2013

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease

scientific article published on 20 February 2010

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism

artículo científico publicado en 2010

Lmbrd1 expression is essential for the initiation of gastrulation

artículo científico publicado en 2016

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

artículo científico publicado en 2017

Mechanisms of arterial calcification: spotlight on the inhibitors

artículo científico publicado en 2008

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

artículo científico publicado en 2012

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

artículo científico publicado en 2003

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

artículo científico publicado en 2015

Novel interferonopathies associated with mutations in RIG-I like receptors

artículo científico publicado en 2016

Npp1 promotes atherosclerosis in ApoE knockout mice

artículo científico publicado en 2011

Prevalence of shoulder calcification in pseudoxanthoma elasticum patients

artículo científico publicado en 2018

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

artículo científico publicado en 2017

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

artículo científico publicado en 2015

Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents

artículo científico publicado en 2017

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression

artículo científico publicado en 2013

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

scientific article published on 01 January 2005

When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria

artículo científico publicado en 2017

Lista de obras de

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

Case 1: An infant with heart failure (case presentation)

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation

Expression of NPP1 is regulated during atheromatous plaque calcification

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1 ⬇️

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

Generalized arterial calcification of infancy: two siblings with prolonged survival

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel

Hereditary Disorders of Cardiovascular Calcification

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism

Lmbrd1 expression is essential for the initiation of gastrulation

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

Mechanisms of arterial calcification: spotlight on the inhibitors

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

Novel interferonopathies associated with mutations in RIG-I like receptors

Npp1 promotes atherosclerosis in ApoE knockout mice

Prevalence of shoulder calcification in pseudoxanthoma elasticum patients

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria