A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders

Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders

(2023) Irene De Biase et al.   CLINICA CHIMICA ACTA

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

(2020) Yorrick R. J. Jaspers et al.   Frontiers in Cell and Developmental Biology

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

(2020) Wedad Fallatah et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Estimation of the Volume of Blood in a Small Disc Punched From a Dried Blood Spot Card

(2017) Erandi Hewawasam et al.   EUROPEAN JOURNAL OF LIPID SCIENCE AND TECHNOLOGY

Precision newborn screening for lysosomal disorders

(2017) Melissa M Minter Baerg et al.   GENETICS IN MEDICINE

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

(2016) S. Tortorelli et al.   CLINICAL CHEMISTRY

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

(2015) Tuva Barøy et al.   HUMAN MOLECULAR GENETICS

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

(2015) Coleman T. Turgeon et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

(2015) B.H. Vogel et al.   MOLECULAR GENETICS AND METABOLISM

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

(2014) Rebecca Buchert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

(2014) Patricia L. Hall et al.   GENETICS IN MEDICINE

Metabolic functions of peroxisomes in health and disease

(2013) Ronald J.A. Wanders   BIOCHIMIE

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

(2013) Dietrich Matern et al.   Developmental Disabilities Research Reviews

Functions of plasmalogen lipids in health and disease

(2012) Nancy E. Braverman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Genetics and molecular basis of human peroxisome biogenesis disorders

(2012) Hans R. Waterham et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Enhanced interpretation of newborn screening results without analyte cutoff values

(2012) Gregg Marquardt et al.   GENETICS IN MEDICINE

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

(2011) Brandon Itzkovitz et al.   HUMAN MUTATION

Posttranslational Regulation of Fatty Acyl-CoA Reductase 1, Far1, Controls Ether Glycerophospholipid Synthesis

(2010) Masanori Honsho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY