Related references
Note: Only part of the references are listed.A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
Wedad Fallatah et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)
Regulation of plasmalogen metabolism and traffic in mammals: The fog begins to lift
Fabian Dorninger et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata
Wedad Fallatah et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Structure-specific, accurate quantitation of plasmalogen glycerophosphoethanolamine
Yulemni Morel et al.
ANALYTICA CHIMICA ACTA (2021)
Establishing age-stratified red blood cell fatty acid reference ranges using model-based clustering and iterative application of the harris-boyd method
Kayode A. Balogun et al.
CLINICAL BIOCHEMISTRY (2021)
Rapid identification of plasmalogen molecular species using targeted multiplexed selected reaction monitoring mass spectrometry
Abul Kalam Azad et al.
JOURNAL OF MASS SPECTROMETRY AND ADVANCES IN THE CLINICAL LAB (2021)
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update
Angela L. Duker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Irene De Biase et al.
GENETICS IN MEDICINE (2020)
Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice
Jakob Koch et al.
ANALYTICAL CHEMISTRY (2020)
Effect of fasting status and other pre-analytical variables on quantitation of long-chain fatty acids in red blood cells
B. K. Lozier et al.
PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS (2020)
Plasmalogens: A potential therapeutic target for neurodegenerative and cardiometabolic disease
Sudip Paul et al.
PROGRESS IN LIPID RESEARCH (2019)
Plasma lipidomics as a diagnostic tool for peroxisomal disorders
Katharina Herzog et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Accurate quantitation of choline and ethanolamine plasmalogen molecular species in human plasma by liquid chromatography-tandem mass spectrometry
Yurika Otoki et al.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS (2017)
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Nancy E. Braverman et al.
MOLECULAR GENETICS AND METABOLISM (2016)
MS/MS and LC-MS/MS analysis of choline/ethanolamine plasmalogens via promotion of alkali metal adduct formation
Yurika Otoki et al.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2015)
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
Rebecca Buchert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Erythrocyte Phospholipid and Polyunsaturated Fatty Acid Composition in Diabetic Retinopathy
Philippe Koehrer et al.
PLOS ONE (2014)
The neurology of rhizomelic chondrodysplasia punctata
Annemieke M. Bams-Mengerink et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Functions of plasmalogen lipids in health and disease
Nancy E. Braverman et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Lipid Composition of the Human Eye: Are Red Blood Cells a Good Mirror of Retinal and Optic Nerve Fatty Acids?
Niyazi Acar et al.
PLOS ONE (2012)
Human and great ape red blood cells differ in plasmalogen levels and composition
Ann B. Moser et al.
LIPIDS IN HEALTH AND DISEASE (2011)
Metabolomics in Early Alzheimer's Disease: Identification of Altered Plasma Sphingolipidome Using Shotgun Lipidomics
Xianlin Han et al.
PLOS ONE (2011)
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
Mere S. Ebberink et al.
JOURNAL OF MEDICAL GENETICS (2010)
Plasmalogen levels in full-term neonates
I. Labadaridis et al.
ACTA PAEDIATRICA (2009)
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts
S. J. Steinberg et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Mass spectrometric analysis of lipid species of human circulating blood cells
Katharina Leidl et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2008)
Chondrodysplasia punctata: a clinical diagnostic and radiological review
Melita D. Irving et al.
CLINICAL DYSMORPHOLOGY (2008)
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C
Avraham Zeharia et al.
JOURNAL OF HUMAN GENETICS (2007)
Functions and biosynthesis of plasmalogens in health and disease
P Brites et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2004)
Electrospray ionization tandem mass spectrometry of glycerophosphoethanolamine plasmalogen phospholipids
KAZ Berry et al.
JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY (2004)
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
N Braverman et al.
HUMAN MUTATION (2002)