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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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Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1137-1145

2012

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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 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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The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.303-312

2019

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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.332-340

2003

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Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.249-255

2018

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L-serine in disease and development

Biochemical journal, 2003-05, Vol.371 (Pt 3), p.653-661

2003

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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 and biochemical spectrum of D-bifunctional protein deficiency

Annals of neurology, 2006-01, Vol.59 (1), p.92-104

2006

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The EEG response to pyridoxine‐IV neither identifies nor excludes pyridoxine‐dependent epilepsy

Epilepsia (Copenhagen), 2010-12, Vol.51 (12), p.2406-2411

2010

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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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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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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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Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases

Handbook of Clinical Neurology, 2013, Vol.113, p.1553-1562

2013

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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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Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum

Pediatric neurology, 2016-06, Vol.59, p.6-12

2016

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Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.359-361

2015

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1752-1758

2018

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Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

American journal of medical genetics. Part A, 2008-03, Vol.146A (6), p.740-744

2008

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

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

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

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

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

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

L-serine in disease and development

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

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Clinical and biochemical spectrum of D-bifunctional protein deficiency

The EEG response to pyridoxine‐IV neither identifies nor excludes pyridoxine‐dependent epilepsy

Zellweger spectrum disorders: clinical overview and management approach

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases

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

Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

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