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名词信息
中 文 名:
哈特纳普病
英 文 名:
Hartnup disease
中文又称:
遗传性烟酸缺乏症
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Hartnup disease
相关文献:
Hartnup Disease.
Hashmi MS, Gupta V.
2023 Feb 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:32644502
[Hartnup disease].
Takita H.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):565-8.
PMID:9645135
Hartnup disease.
Oyanagi K, Takagi M, Kitabatake M, Nakao T.
Tohoku J Exp Med. 1967 Apr;91(4):383-95. doi: 10.1620/tjem.91.383.
PMID:4228120
Hartnup disease.
Patel AB, Prabhu AS.
Indian J Dermatol. 2008 Jan;53(1):31-2. doi: 10.4103/0019-5154.39740.
PMID:19967017
Hartnup disease.
BORRIE PF, LEWIS CA.
Proc R Soc Med. 1962 Mar;55(3):231-2. doi: 10.1177/003591576205500313.
PMID:13871450
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.
Bachmann T, Faust H, Abou Jamra R, Pott C, Kluge M, Rumpf JJ, Then Bergh F, Beblo S.
Neurol Genet. 2024 Nov 27;10(6):e200195. doi: 10.1212/NXG.0000000000200195. eCollection 2024 Dec.
PMID:39611136
New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19.
Kravetz Z, Schmidt-Kastner R.
IBRO Neurosci Rep. 2023 Mar 25;14:393-397. doi: 10.1016/j.ibneur.2023.03.010. eCollection 2023 Jun.
PMID:37101820
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Wang X, Li XY, Piao Y, Yuan G, Lin Y, Chen H, Wang Z, Li C, Wang C.
Am J Med Genet A. 2022 Jan;188(1):237-242. doi: 10.1002/ajmg.a.62475. Epub 2021 Aug 30.
PMID:34459558
Hartnup disease.
Milne MD.
Biochem J. 1969 Feb;111(3):3P-4P. doi: 10.1042/bj1110003p.
PMID:4237364
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A.
Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023.
PMID:37008993
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