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Functions of plasmalogen lipids in health and disease

Biochimica et biophysica acta, 2012-09, Vol.1822 (9), p.1442-1452

2012

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X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

International journal of developmental neuroscience, 2020-02, Vol.80 (1), p.52-72

2020

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Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

JAMA neurology, 2018-10, Vol.75 (10), p.1175

2018

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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Molecular genetics and metabolism, 2016-03, Vol.117 (3), p.313-321

2016

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Hif-2α Promotes Degradation of Mammalian Peroxisomes by Selective Autophagy

Cell metabolism, 2014-11, Vol.20 (5), p.882-897

2014

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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Human molecular genetics, 2015-01, Vol.24 (2), p.361-370

2015

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Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens

Biochimica et biophysica acta, 2015-02, Vol.1851 (2), p.117-128

2015

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A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern

PloS one, 2013-07, Vol.8 (7), p.e60581-e60581

2013

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Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

International journal of neonatal screening, 2022-02, Vol.8 (1), p.16

2022

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Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase

Circulation research, 2008-11, Vol.103 (10), p.1173-1180

2008

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Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model

Cells (Basel, Switzerland), 2024-10, Vol.13 (20), p.1687

2024

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Newborn Screening for X-Linked Adrenoleukodystrophy

International journal of neonatal screening, 2016-12, Vol.2 (4), p.15

2016

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Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Annals of neurology, 2008-06, Vol.63 (6), p.729-742

2008

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Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

Annals of neurology, 2001-04, Vol.49 (4), p.512-517

2001

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Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.93-106

2011

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Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening

The Journal of pediatrics, 2005-04, Vol.146 (4), p.528-532

2005

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Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

Molecular genetics and metabolism, 2014-01, Vol.111 (1), p.55-57

2014

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A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Frontiers in cell and developmental biology, 2022-07, Vol.10, p.886316-886316

2022

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Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.172-183

2014

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MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

JIMD reports, 2022-11, Vol.63 (6), p.593-603

2022

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Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy

Annals of the Child Neurology Society, 2023-06, Vol.1 (2), p.155-161

2023

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Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

Communications biology, 2022-09, Vol.5 (1), p.944-944, Article 944

2022

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Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Human mutation, 2007-09, Vol.28 (9), p.904-912

2007

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Bezafibrate for X-linked adrenoleukodystrophy

PloS one, 2012-07, Vol.7 (7), p.e41013-e41013

2012

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Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Molecular genetics and metabolism, 2012-03, Vol.105 (3), p.416-420

2012

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Functions of plasmalogen lipids in health and disease

X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Hif-2α Promotes Degradation of Mammalian Peroxisomes by Selective Autophagy

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens

A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase

Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model

Newborn Screening for X-Linked Adrenoleukodystrophy

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Bezafibrate for X-linked adrenoleukodystrophy

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

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