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Lipoic acid biosynthesis defects

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.553-563

2014

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Differential diagnosis of lipoic acid synthesis defects

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.781-793

2016

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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Journal of Inherited Metabolic Disease, 2015-11, Vol.38 (6), p.1007-1019

2015

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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Journal of lipid research, 2015-10, Vol.56 (10), p.1926-1935

2015

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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

International journal of molecular sciences, 2023-08, Vol.24 (15), p.12319

2023

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Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Pediatrics (Evanston), 2016-11, Vol.138 (5)

2016

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Neonatal Screening for Inherited Metabolic Diseases in 2016

Seminars in pediatric neurology, 2016-11, Vol.23 (4), p.257-272

2016

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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12367

2022

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Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.1-195, Article 195

2021

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Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.188-188, Article 188

2023

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Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

Frontiers in physiology, 2022-07, Vol.13, p.898792-898792

2022

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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.391-403

2015

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Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

Journal of clinical medicine, 2020-03, Vol.9 (4), p.913

2020

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Role of creatine as biomarker of mitochondrial diseases

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.119-124

2013

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Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report

Journal of clinical medicine, 2023-12, Vol.12 (23), p.7452

2023

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Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

Journal of clinical medicine, 2020-02, Vol.9 (3), p.644

2020

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Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes

American journal of obstetrics and gynecology, 2009-05, Vol.200 (5), p.499.e1-499.e6

2009

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Newborn Screening for SCID: Experience in Spain (Catalonia)

International journal of neonatal screening, 2021-07, Vol.7 (3), p.46

2021

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Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry

Clinical biochemistry, 2013-02, Vol.46 (3), p.271-274

2013

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

PloS one, 2016-05, Vol.11 (5), p.e0156359-e0156359

2016

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Small molecules as therapeutic agents for inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2017-03, Vol.40 (2), p.177-193

2017

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Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

Molecular genetics and metabolism, 2008-06, Vol.94 (2), p.234-239

2008

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Erratum to: 12th international congress of inborn errors of metabolism, 3rd–6th September, 2013

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.581-581

2015

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12th international congress of inborn errors of metabolism, 3rd–6th September, 2013

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.481-481

2014

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Lipoic acid biosynthesis defects

Differential diagnosis of lipoic acid synthesis defects

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Neonatal Screening for Inherited Metabolic Diseases in 2016

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

Role of creatine as biomarker of mitochondrial diseases

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes

Newborn Screening for SCID: Experience in Spain (Catalonia)

Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

Small molecules as therapeutic agents for inborn errors of metabolism

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

Erratum to: 12th international congress of inborn errors of metabolism, 3rd–6th September, 2013

12th international congress of inborn errors of metabolism, 3rd–6th September, 2013

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