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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.
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 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 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
Type I hyperprolinemia.
Shivananda, Christopher R, Kumar P.
Indian J Pediatr. 2000 Jul;67(7):541-3. doi: 10.1007/BF02760491.
PMID:10957843
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
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
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
[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
Identification of delta-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Merx J, van Outersterp RE, Engelke UFH, Hendriks V, Wevers RA, Huigen MCDG, Waterval HWAH, Körver-Keularts IMLW, Mecinović J, Rutjes FPJT, Oomens J, Coene KLM, Martens J, Boltje TJ.
Commun Biol. 2022 Sep 21;5(1):997. doi: 10.1038/s42003-022-03960-2.
PMID:36131087
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