Results 231 to 240 of about 1,353,029 (249)

Peroxisomal biogenesis disorder biomarkers.

Clinical laboratory, 2011
The pathological mechanisms underlying peroxisomal biogenesis disorders (PBD) are not fully understood and the available therapies are not sufficient. This stresses the importance of identifying biochemical markers that reflect the extent of peroxisomal dysfunction in plasma of PBD patients.Very long chain fatty acids VLCFAs, Phytanic acid ...
Wafaa, Ghoneim, Hala T, El-Bassyouni, Soheir A, Abdel Maksoud   +2 more
openaire   +1 more source

Peroxisome Biogenesis and Human Peroxisomal Disorders

Biochemical Society Transactions, 2000
openaire   +2 more sources

An overview of peroxisomal biogenesis disorders

Molecular Genetics and Metabolism, 2005
openaire   +2 more sources

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives

Developmental Disabilities Research Reviews, 2013
Nancy Braverman, Maria Daniela D'Agostino   +1 more
exaly  

Peroxisome Biogenesis Disorders: Identification of a New Complementation Group Distinct from Peroxisome-Deficient CHO Mutants and Not Complemented by Human PEX 13

Biochemical and Biophysical Research Communications, 1998
Nobuyuki Shimozawa, Takashi Osumi, Peter G Barth   +2 more
exaly  

Identification of a new complementation group of the peroxisome biogenesis disorders andPEX14 as the mutated gene

Human Mutation, 2004
Ronald Wanders, Nobuyuki Shimozawa
exaly  

Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders

American Journal of Human Genetics, 1998
Yukio Fujiki, Tsuneo Imanaka, Nobuyuki Shimozawa   +2 more
exaly  

Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Peroxisomal-Membrane Ghosts

American Journal of Human Genetics, 1998
Nobuyuki Shimozawa, Takashi Osumi, Toshiro Tsukamoto   +2 more
exaly  

Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders

Clinical Neurology and Neurosurgery, 2019
Cao Li, Feixia Zhan, Xing-Wang Song
exaly  

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

American Journal of Medical Genetics Part A, 2004
Hans Waterham, Ronald Wanders, Bwee Tien Poll-The   +2 more
exaly