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hyperprolinemia type Ⅰ 相关文献:
Disorders affecting vitamin B6 metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT.
J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20.
PMID:30671974
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
Namavar Y, Duineveld DJ, Both GIA, Fiksinski AM, Vorstman JAS, Verhoeven-Duif NM, Zinkstok JR.
Am J Med Genet B Neuropsychiatr Genet. 2021 Jul;186(5):289-317. doi: 10.1002/ajmg.b.32869. Epub 2021 Jul 24.
PMID:34302426
Type I hyperprolinemia.
Shivananda, Christopher R, Kumar P.
Indian J Pediatr. 2000 Jul;67(7):541-3. doi: 10.1007/BF02760491.
PMID:10957843
Hyperprolinemia type II.
Applegarth DA, Ingram P, Hingston J, Hardwick DF.
Clin Biochem. 1974 Mar;7(1):14-28. doi: 10.1016/s0009-9120(74)90174-x.
PMID:4825691
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Hama R, Kido J, Sugawara K, Nakamura T, Nakamura K.
Hum Genome Var. 2021 Jul 20;8(1):28. doi: 10.1038/s41439-021-00159-5.
PMID:34285201
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C.
JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27.
PMID:26409463
[Hyperprolinemia type I].
Endo F.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):152-4.
PMID:9590013
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
Mastrangelo M, Gasparri V, Bernardi K, Foglietta S, Ramantani G, Pisani F.
Children (Basel). 2023 Mar 15;10(3):553. doi: 10.3390/children10030553.
PMID:36980111
[Hyperprolinemia type II].
Endo F.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):155-7.
PMID:9590014
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D.
Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296.
PMID:20524212
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