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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
[Hyperprolinemia type II].
Endo F.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):155-7.
PMID:9590014
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 I].
Endo F.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):152-4.
PMID:9590013
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 caused by PRODH gene variation: 2 cases report and literature review].
Xie ZH, Li X, Xiao MJ, Liu J, Zhang Q, Zhang ZK, Yang YL, Wang HJ, Chen YX, Zhang YD, Li DX.
Zhonghua Er Ke Za Zhi. 2023 Oct 2;61(10):935-937. doi: 10.3760/cma.j.cn112140-20230314-00178.
PMID:37803864
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 - What about the Kidney?].
Rizzo M, Amicone M, Sellitti ML, Marino A, Sannino A, Capuano I, Pisani A.
G Ital Nefrol. 2023 Dec 22;40(6):2023-vol6.
PMID:38156540
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
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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