Associated Papers
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
Gürbüz BB et al.
American Journal of Medical Genetics. Part A, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
Manaspon C et al.
American Journal of Medical Genetics. Part A, 2021
Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).
Patel SM et al.
Archives of Biochemistry and Biophysics, 2021
Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.
Afroze B et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant.
Spagnoli C et al.
European Journal of Neurology, 2019
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Meng L et al.
American Journal of Medical Genetics. Part A, 2017
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Zaki MS et al.
Annals of Neurology, 2016
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