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Fatty aldehyde and fatty alcohol metabolism: Review and importance for epidermal structure and function

Biochimica et biophysica acta, 2014-03, Vol.1841 (3), p.377-389

Rizzo, William B.

2014

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A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome

Journal of child neurology, 2021-10, Vol.36 (11), p.1011-1016

2021

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Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

American journal of human genetics, 2011-12, Vol.89 (6), p.745-750

2011

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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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Sjögren–Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

Molecular genetics and metabolism, 2007-01, Vol.90 (1), p.1-9

Rizzo, William B.

2007

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Pangenome graphs improve the analysis of structural variants in rare genetic diseases

Nature communications, 2024-01, Vol.15 (1), p.657-657, Article 657

2024

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Genotype and phenotype variability in Sjögren‐Larsson syndrome

Human mutation, 2019-02, Vol.40 (2), p.177-186

2019

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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Molecular genetics and metabolism, 2015-04, Vol.114 (4), p.501-515

2015

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Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome

Expert opinion on orphan drugs, 2016-04, Vol.4 (4), p.395-406

Rizzo, William B.

2016

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Mitochondrial Fatty-Acid Oxidation Disorders

Seminars in pediatric neurology, 2008-09, Vol.15 (3), p.140-149

2008

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Formation and characterization of lipid droplets of the bovine corpus luteum

Scientific reports, 2020-07, Vol.10 (1), p.11287-11287, Article 11287

2020

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1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.253-258

2020

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Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype

Ophthalmic genetics, 2019-07, Vol.40 (4), p.298-308

2019

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Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

Metabolites, 2023-05, Vol.13 (6), p.682

2023

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Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.217-227

2018

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Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100839-100839, Article 100839

2022

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Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

Science (American Association for the Advancement of Science), 2013-08, Vol.341 (6148), p.864-864

2013

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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Genetics in medicine, 2018-10, Vol.20 (10), p.1274-1283

2018

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Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101030-101030, Article 101030

2024

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Dolichol kinase deficiency (DOLK‐CDG): Two new cases and expansion of phenotype

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2428-2434

2017

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Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1265-1278

2020

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Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients

Human mutation, 2021-08, Vol.42 (8), p.1015-1029

2021

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Segmentation of Retinal Layers in Sjögren–Larsson Syndrome

Ophthalmology (Rochester, Minn.), 2015-08, Vol.122 (8), p.1730-1732

2015

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Fatty aldehyde and fatty alcohol metabolism: Review and importance for epidermal structure and function

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

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

Sjögren–Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

Pangenome graphs improve the analysis of structural variants in rare genetic diseases

Genotype and phenotype variability in Sjögren‐Larsson syndrome

Aldehyde dehydrogenase 3a2 protects AML cells from oxidative death and the synthetic lethality of ferroptosis inducers

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome

Mitochondrial Fatty-Acid Oxidation Disorders

Formation and characterization of lipid droplets of the bovine corpus luteum

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome

Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype

Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Dolichol kinase deficiency (DOLK‐CDG): Two new cases and expansion of phenotype

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients

Segmentation of Retinal Layers in Sjögren–Larsson Syndrome

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