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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Orphanet journal of rare diseases, 2014-09, Vol.9 (1), p.130-130, Article 130

2014

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Pharmacological Chaperoning: A Potential Treatment for PMM2‐CDG

Human mutation, 2017-02, Vol.38 (2), p.160-168

2017

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Annals of neurology, 2019-05, Vol.85 (5), p.740-751

2019

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The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

Human mutation, 2015-09, Vol.36 (9), p.851-860

2015

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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.535-542

2013

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The enigmatic role of tafazzin in cardiolipin metabolism

Biochimica et biophysica acta, 2009-10, Vol.1788 (10), p.2003-2014

2009

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DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

PloS one, 2017-06, Vol.12 (6), p.e0179456-e0179456

2017

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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

The Journal of pediatrics, 2017-04, Vol.183, p.170-177.e1

2017

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Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.731-740

2013

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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

International journal of molecular sciences, 2018-02, Vol.19 (2), p.619

2018

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A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.407-413

2019

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Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

Scientific reports, 2017-07, Vol.7 (1), p.5727-11, Article 5727

2017

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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Journal of medical genetics, 2019-04, Vol.56 (4), p.236-245

2019

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DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2027-2030

2012

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Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

Human mutation, 2017-06, Vol.38 (6), p.678-691

2017

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.709-713

2017

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Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

Epilepsia (Copenhagen), 2013-02, Vol.54 (2), p.239-248

2013

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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

Human mutation, 2009-11, Vol.30 (11), p.1558-1566

2009

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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)

Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.929-939

2011

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Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

Human mutation, 2009-05, Vol.30 (5), p.795-803

2009

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Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

Stem cell research, 2019-07, Vol.38, p.101469-101469, Article 101469

2019

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Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Stem cell research, 2019-08, Vol.39, p.101503-101503, Article 101503

2019

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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

Journal of human genetics, 2017-03, Vol.62 (3), p.355-360

2017

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Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

Reviews in analytical chemistry, 2017-07, Vol.36 (3), p.221-227

2017

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Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

Case reports in pediatrics, 2020-01, Vol.2020 (2020), p.1-4

2020

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Pharmacological Chaperoning: A Potential Treatment for PMM2‐CDG

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

The enigmatic role of tafazzin in cardiolipin metabolism

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

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