Lista de obras -

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

artículo científico publicado en 2015

A guide to diagnosis and treatment of Leigh syndrome.

artículo científico publicado en 2013

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

scientific article published on 04 August 2017

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

artículo científico publicado en 2016

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

artículo científico publicado en 2009

Autosomal recessive cutis laxa syndrome revisited

artículo científico publicado en 2009

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

artículo científico publicado en 2011

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

artículo científico publicado en 2010

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

artículo científico publicado en 2018

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

artículo científico publicado en 2008

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Cantú syndrome is caused by mutations in ABCC9.

artículo científico publicado en 2012

Cardiac arrest in kearns-sayre syndrome

artículo científico publicado en 2011

Causes of Death in Adults with Mitochondrial Disease

artículo científico publicado en 2015

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

artículo científico publicado en 2006

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

artículo científico publicado en 2013

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

artículo científico publicado en 2018

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2004

Cutis Laxa

artículo científico

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

artículo científico publicado en 2011

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

artículo científico

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

artículo científico publicado en 2009

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

artículo científico publicado en 2016

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

artículo científico publicado en 2014

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

artículo científico publicado en 2017

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

artículo científico publicado en 2007

Females with PDHA1 gene mutations: a diagnostic challenge.

artículo científico publicado en 2006

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

artículo científico publicado en 2013

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

artículo científico publicado en 2009

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

artículo científico publicado en 2012

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

artículo científico publicado en 2014

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

artículo científico publicado en 2013

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

artículo científico publicado en 2011

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

artículo científico publicado en 2019

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

artículo científico publicado en 2010

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

scientific article published on 01 June 2020

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

artículo científico publicado en 2018

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

artículo científico publicado en 2019

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

artículo científico publicado en 2014

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

artículo científico publicado en 2003

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

artículo científico publicado en 2013

Lymphatic edema in congenital disorders of glycosylation

artículo científico publicado en 2011

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

artículo científico publicado en 2007

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

artículo científico publicado en 2006

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

artículo científico publicado en 2006

Metabolic cutis laxa syndromes

artículo científico publicado en 2011

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

artículo científico publicado en 2012

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

artículo científico publicado en 2010

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

artículo científico publicado en 2006

Mitochondrial energy production correlates with the age-related BMI.

artículo científico publicado en 2009

Multiple phenotypes in phosphoglucomutase 1 deficiency

artículo científico publicado en 2014

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

artículo científico publicado en 2008

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 01 August 2020

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

artículo científico publicado en 2011

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

scientific article published on 17 May 2020

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

artículo científico publicado en 2008

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

artículo científico publicado en 2017

Oral D-galactose supplementation in PGM1-CDG.

artículo científico publicado en 2017

PMM2-CDG caused by uniparental disomy: Case report and literature review

artículo científico publicado en 2020

Perinatal and early infantile symptoms in congenital disorders of glycosylation

artículo científico publicado en 2013

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

artículo científico publicado en 2014

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II ⬇️

artículo científico publicado el 27 de enero de 2011

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

artículo científico publicado en 2016

Provisional new syndrome of MR/MCA with evolving phenotype

artículo científico publicado en 2002

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

scientific article published on 10 August 2011

Recognizable phenotypes in CDG

artículo científico publicado en 2018

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

scientific article published on 11 November 2019

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

artículo científico publicado en 2010

Symptomatic lipid storage in carriers for the PNPLA2 gene

artículo científico publicado en 2012

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

scientific journal article

The 3‐methylglutaconic acidurias: what's new? ⬇️

artículo científico publicado el 30 de septiembre de 2010

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

artículo científico publicado en 2006

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

scientific article published on 19 September 2019

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

artículo científico publicado en 2011

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

artículo científico publicado en 2015

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

artículo científico publicado en 2021

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.

artículo científico publicado en 2014

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

artículo científico publicado en 2020

Lista de obras de

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

A guide to diagnosis and treatment of Leigh syndrome.

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

Autosomal recessive cutis laxa syndrome revisited

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Cantú syndrome is caused by mutations in ABCC9.

Cardiac arrest in kearns-sayre syndrome

Causes of Death in Adults with Mitochondrial Disease

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

Cutis Laxa

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

Females with PDHA1 gene mutations: a diagnostic challenge.

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

Lymphatic edema in congenital disorders of glycosylation

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

Metabolic cutis laxa syndromes

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

Mitochondrial energy production correlates with the age-related BMI.

Multiple phenotypes in phosphoglucomutase 1 deficiency

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

Oral D-galactose supplementation in PGM1-CDG.

PMM2-CDG caused by uniparental disomy: Case report and literature review

Perinatal and early infantile symptoms in congenital disorders of glycosylation

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II ⬇️

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Provisional new syndrome of MR/MCA with evolving phenotype

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

Recognizable phenotypes in CDG

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Symptomatic lipid storage in carriers for the PNPLA2 gene

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

The 3‐methylglutaconic acidurias: what's new? ⬇️

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.