Results 171 to 180 of about 4,693,382 (193)

Peroxisomal Disorders

2006
Poll-The, B. T., Aubourg, P., Wanders, R. J. A.   +2 more
openaire   +3 more sources

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Human Genetics, 2020
E. Tucker, R. Rius, S. Jaillard, K. Bell, P. Lamont, André M. Travessa, J. Dupont, Lurdes Sampaio, J. Dulon, S. Vuillaumier-Barrot, S. Whalen, A. Isapof, T. Stojkovic, S. Quijano-Roy, G. Robevska, J. van den Bergen, Chloe A Hanna, Andrea Simpson, K. Ayers, D. Thorburn, J. Christodoulou, P. Touraine, A. Sinclair   +22 more
semanticscholar   +1 more source

Peroxisomal Disorders: Overview

Annals of the New York Academy of Sciences, 1996
H W, Moser, A B, Moser
openaire   +2 more sources

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Molecular Genetics and Metabolism, 2017
Katharina Herzog, H. van Lenthe, R. Wanders, F. Vaz, H. Waterham, S. Ferdinandusse   +5 more
semanticscholar   +1 more source

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

Molecular Genetics and Metabolism, 2023
Heather Baudet, Sharon Suchy, Meredith Weaver   +2 more
exaly  

Peroxisomal Disorders

Greenfield's Neuropathology - Two Volume Set, 2018

semanticscholar   +1 more source

Peroxisomal disorders in man

Cell Biochemistry and Function, 1992
A A, Roscher, B, Rolinski
openaire   +2 more sources

Peroxisome Biogenesis and Human Peroxisomal Disorders

Biochemical Society Transactions, 2000
openaire   +2 more sources

Urinary organic acids in peroxisomal disorders: a simple screening method

Biomedical Applications, 2001
Masahiko Kimura, Yasuyuki Suzuki, Nobuyuki Shimozawa   +2 more
exaly  

Rhizomelic Chondrodysplasia Punctata: Report of a Case with Review of the Literature and Correlation with Other Peroxisomal Disorders

Pediatric Pathology & Laboratory Medicine: Journal of the Society for Pediatric Pathology, Affiliated With the International Paediatric Pathology Association, 1995
Dimitri Agamanolis, Robert W Novak
exaly