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Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

Human molecular genetics, 2013-09, Vol.22 (18), p.3680-3689

2013

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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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Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

Journal of clinical medicine, 2021-10, Vol.10 (21), p.4855

2021

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Defining the pathogenicity of creatine deficiency syndrome

Human mutation, 2011-03, Vol.32 (3), p.282-291

2011

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Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2182

2023

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Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-243, Article 243

2022

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Metabolic Serendipities of Expanded Newborn Screening

Genes, 2020-08, Vol.11 (9), p.1018

2020

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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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Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

Antioxidants, 2022-08, Vol.11 (8), p.1588

2022

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Long‐term follow‐up with filter paper samples in patients with propionic acidemia

JIMD reports, 2021-01, Vol.57 (1), p.44-51

2021

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Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method

Antioxidants, 2022-03, Vol.11 (3), p.528

2022

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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

Journal of clinical medicine, 2022-05, Vol.11 (10), p.2933

2022

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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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A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

Developmental medicine and child neurology, 2010-02, Vol.52 (2), p.215-217

2010

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Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007-12, Vol.860 (1), p.121-126

2007

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Fungal Metabolic Model for Type I 3-Methylglutaconic Aciduria

The Journal of biological chemistry, 2004-07, Vol.279 (31), p.32385-32392

2004

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Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

Amino acids, 2022-05, Vol.54 (5), p.777-786

2022

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Fungal Metabolic Model for 3-Methylcrotonyl-CoA Carboxylase Deficiency

The Journal of biological chemistry, 2004-02, Vol.279 (6), p.4578-4587

2004

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Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

Pediatric and developmental pathology, 2023-03, Vol.26 (2), p.138-143

2023

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Technical Aspects of Coenzyme Q 10 Analysis: Validation of a New HPLC-ED Method

Antioxidants, 2022-03, Vol.11 (3)

2022

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Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

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

Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

Defining the pathogenicity of creatine deficiency syndrome

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Metabolic Serendipities of Expanded Newborn Screening

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

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

Long‐term follow‐up with filter paper samples in patients with propionic acidemia

Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

Fungal Metabolic Model for Type I 3-Methylglutaconic Aciduria

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

Fungal Metabolic Model for 3-Methylcrotonyl-CoA Carboxylase Deficiency

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

Technical Aspects of Coenzyme Q 10 Analysis: Validation of a New HPLC-ED Method

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