Results 111 to 120 of about 1,135,071 (192)

Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series. [PDF]

Oman Med J
Al Shamsi B, Ganesh A, Harikrishna B, Al Zuhaibi S, Markovic I, Mansy A, Al Thihli K, Ahmad F, Mameesh M, Al Murshedi F.   +9 more
europepmc   +1 more source

Genetic and molecular bases of peroxisome biogenesis disorders [PDF]

Genetics in Medicine, 2001
Y, Suzuki, N, Shimozawa, T, Orii, T, Tsukamoto, T, Osumi, Y, Fujiki, N, Kondo   +6 more
openaire   +2 more sources

Peroxisome Dysfunction and Steatotic Liver Disease. [PDF]

Int J Mol Sci
Vinoy N, Huang G, Wallace DF, Subramaniam VN.   +3 more
europepmc   +1 more source

Peroxisome Biogenesis Disorder 6A [PDF]

, 2020
openaire   +1 more source

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review. [PDF]

BMC Pediatr
Su J, Tao Y, Zhang L, Luo J.
europepmc   +1 more source

Peroxisome Biogenesis Disorder 7B [PDF]

, 2020
openaire   +1 more source

Peroxisomal import is circadian in glia and regulates sleep and lipid metabolism. [PDF]

PLoS Biol
Das A, Rivas-Serna IM, Kumar A, Sherpa L, Huang K, Kalita H, Dorneich-Hayes M, Liu R, Mazurak VC, Vaughen JP, Bai H.   +10 more
europepmc   +1 more source

Peroxisome Biogenesis Disorder 4B [PDF]

, 2020
openaire   +1 more source

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening. [PDF]

Int J Neonatal Screen
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, Couce ML, González-Lamuño D, Neonatal Screening Working Group of AECOM.   +10 more
europepmc   +1 more source

Peroxisome Biogenesis Disorders

Japanese Journal of Clinical Chemistry, 1998
openaire   +1 more source