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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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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

PloS one, 2016-04, Vol.11 (4), p.e0154597-e0154597

2016

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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Orphanet journal of rare diseases, 2012-10, Vol.7 (1), p.83-83

2012

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3382-3397

2019

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Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition

PloS one, 2016-05, Vol.11 (5), p.e0155143-e0155143

2016

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A Lethal Defect of Mitochondrial and Peroxisomal Fission

The New England journal of medicine, 2007-04, Vol.356 (17), p.1736-1741

2007

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Visual Performance as a Function of Luminance in Glaucoma: The De Vries-Rose, Weber's, and Ferry-Porter's Law

Investigative ophthalmology & visual science, 2018-07, Vol.59 (8), p.3416-3423

2018

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Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

Scientific reports, 2022-02, Vol.12 (1), p.2512-2512, Article 2512

2022

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Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

Neurology, 2014-03, Vol.82 (11), p.963-968

2014

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Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation[S]

Molecular & cellular proteomics, 2015-11, Vol.14 (11), p.3056-3071

2015

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Chronotyping glaucoma patients with the Munich ChronoType Questionnaire: A case-control study

PloS one, 2019-03, Vol.14 (3), p.e0214046-e0214046

2019

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A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

Journal of medical genetics, 2012-05, Vol.49 (5), p.307-313

2012

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Mutations in PEX10 are a cause of autosomal recessive ataxia

Annals of neurology, 2010-08, Vol.68 (2), p.259-263

2010

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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.873-879

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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Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.93-106

2016

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Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (46), p.17712-17717

2008

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common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Proceedings of the National Academy of Sciences - PNAS, 2012-05, Vol.109 (21), p.7974-7981

2012

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Foveal light and dark adaptation in patients with glaucoma and healthy subjects: A case-control study

PloS one, 2018-03, Vol.13 (3), p.e0193663-e0193663

2018

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New insights on the mechanisms of valproate-induced hyperammonemia: Inhibition of hepatic N -acetylglutamate synthase activity by valproyl-CoA

Journal of hepatology, 2011-08, Vol.55 (2), p.426-434

2011

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Clinical and biochemical characterization of four patients with mutations in ECHS1

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.79-79, Article 79

2015

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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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A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

Movement disorders, 2016-11, Vol.31 (11), p.1733-1739

2016

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Sjögren–Larsson syndrome in clinical practice

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.955-962

2012

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Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome

Stem cell research, 2013-09, Vol.11 (2), p.806-819

2013

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

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Visual Performance as a Function of Luminance in Glaucoma: The De Vries-Rose, Weber's, and Ferry-Porter's Law

Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation[S]

Chronotyping glaucoma patients with the Munich ChronoType Questionnaire: A case-control study

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

Mutations in PEX10 are a cause of autosomal recessive ataxia

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

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

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Foveal light and dark adaptation in patients with glaucoma and healthy subjects: A case-control study

New insights on the mechanisms of valproate-induced hyperammonemia: Inhibition of hepatic N -acetylglutamate synthase activity by valproyl-CoA

Clinical and biochemical characterization of four patients with mutations in ECHS1

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

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

Sjögren–Larsson syndrome in clinical practice

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome

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