临床医学名词词典

名词信息

中文名: 高脯氨酸血症Ⅱ型

英文名: hyperprolinemia type Ⅱ

中文又称:

中文曾称:

名词来源:

所属专业: 内分泌科

所属类别: 临床检查名词

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Pubmed相关的文献

hyperprolinemia type Ⅱ 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

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

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

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 II].

Endo F.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):155-7.

PMID:9590014

[Hyperprolinemia type I].

Endo F.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):152-4.

PMID:9590013

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

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: 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