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Disease and patient characteristics in NP-C patients: findings from an international disease registry

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.12-12

2013

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Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

Autophagy, 2009-01, Vol.5 (1), p.19-32

2009

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Miglustat in Niemann-Pick disease type C patients: a review

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.140-140, Article 140

2018

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Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.131-138

2019

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Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

Pediatrics (Evanston), 2015-08, Vol.136 (2), p.e424-e432

2015

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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

Molecular genetics & genomic medicine, 2019-11, Vol.7 (11), p.e972-n/a

2019

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The phenotype associated with a large deletion on MECP2

European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.921-927

2012

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Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

International journal of molecular sciences, 2019-08, Vol.20 (16), p.3925

2019

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Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Clinical biochemistry, 2008-06, Vol.41 (9), p.697-700

2008

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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Mitochondrion, 2016-01, Vol.26, p.72-80

2016

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Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients

Journal of child neurology, 2013-04, Vol.28 (4), p.470-478

2013

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Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.315-319

2010

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Reflex seizures in Rett syndrome

Epileptic disorders, 2011-12, Vol.13 (4), p.389-393

2011

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Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency

Cerebellum (London, England), 2007-01, Vol.6 (2), p.118-122

2007

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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

Human genetics, 2016-12, Vol.135 (12), p.1343-1354

2016

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Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

Clinical biochemistry, 2011-06, Vol.44 (8), p.719-721

2011

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Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Clinical biochemistry, 2007-11, Vol.40 (16), p.1328-1331

2007

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Plasma coenzyme Q10 status is impaired in selected genetic conditions

Scientific reports, 2019-01, Vol.9 (1), p.793-793, Article 793

2019

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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-445, Article 445

2021

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Recommendations on the diagnosis and management of Niemann-Pick disease type C

Molecular genetics and metabolism, 2009-10, Vol.98 (1), p.152-165

2009

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Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann–Pick type C disease

Gene, 2012-09, Vol.506 (1), p.207-210

2012

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InterRett, a model for international data collection in a rare genetic disorder

Research in autism spectrum disorders, 2009-07, Vol.3 (3), p.639-659

2009

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Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up

Biomedicine & pharmacotherapy, 2021-11, Vol.143, p.112143-112143, Article 112143

2021

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Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: Reference values for a paediatric population

Clinica chimica acta, 2006-09, Vol.371 (1), p.159-162

2006

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iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

EMBO molecular medicine, 2023-03, Vol.15 (3), p.e15847-n/a

2023

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Disease and patient characteristics in NP-C patients: findings from an international disease registry

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

Miglustat in Niemann-Pick disease type C patients: a review

Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

The phenotype associated with a large deletion on MECP2

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Reflex seizures in Rett syndrome

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Plasma coenzyme Q10 status is impaired in selected genetic conditions

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Recommendations on the diagnosis and management of Niemann-Pick disease type C

Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann–Pick type C disease

InterRett, a model for international data collection in a rare genetic disorder

Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: Reference values for a paediatric population

iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

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