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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

Brain (London, England : 1878), 2014-03, Vol.137 (Pt 3), p.693-706

2014

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Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy

Brain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.e326-e326

2015

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The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

Pediatrics (Evanston), 2003-08, Vol.112 (2), p.332

2003

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Diffuse hypomyelination is not obligate for POLR3-related disorders

Neurology, 2016-04, Vol.86 (17), p.1622

2016

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The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

JIMD Reports, Volume 33, 2017-01, Vol.33, p.49-53

2017

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Peroxisomal Biogenesis Disorder: Comparison of Conventional MR Imaging with Diffusion-Weighted and Diffusion-Tensor Imaging Findings

American journal of neuroradiology : AJNR, 2004-06, Vol.25 (6), p.1022-1027

2004

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Brain (London, England : 1878), 2010-03, Vol.133 (3), p.655-670

2010

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Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency

Human mutation, 1995, Vol.5 (1), p.94-96

1995

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Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Molecular genetics and metabolism, 2004-07, Vol.82 (3), p.224-230

2004

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Clinical pathways for inborn errors of metabolism: warranted and feasible

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.37-37, Article 37

2013

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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

Orphanet journal of rare diseases, 2011-07, Vol.6 (1), p.50-50, Article 50

2011

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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.51-51

2012

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What's new in pontocerebellar hypoplasia? An update on genes and subtypes

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.92-92, Article 92

2018

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X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Current neurology and neuroscience reports, 2014-10, Vol.14 (10), p.486-486, Article 486

2014

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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1021-1038

2021

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Zellweger spectrum disorders: clinical overview and management approach

Orphanet journal of rare diseases, 2015-12, Vol.10 (1), p.151-151, Article 151

2015

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Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.875-881

2017

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Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.579-583

2020

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156

2011

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Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

Journal of neurology, 2020-08, Vol.267 (8), p.2484-2484

2020

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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Brain (London, England : 1878), 2017-12, Vol.140 (12), p.3105-3111

2017

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A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.207-212

2017

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Disease progression in women with X-linked adrenoleukodystrophy is slow

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.30-30, Article 30

2019

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A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.897-898

2018

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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

Diffuse hypomyelination is not obligate for POLR3-related disorders

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

Peroxisomal Biogenesis Disorder: Comparison of Conventional MR Imaging with Diffusion-Weighted and Diffusion-Tensor Imaging Findings

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Clinical pathways for inborn errors of metabolism: warranted and feasible

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

What's new in pontocerebellar hypoplasia? An update on genes and subtypes

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Zellweger spectrum disorders: clinical overview and management approach

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's

Disease progression in women with X-linked adrenoleukodystrophy is slow

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

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