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aminoacidopathy相关文献:
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.
Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8.
PMID:25205257
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H.
Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1.
PMID:29094226
TTCT 1471 mutation in lysnuric protein intolerance: Clinical features of a Tunisian paediatric series.
Jbebli E, Jbeli Y, Amdouni R, Ben Abdelaziz R, Boudabous H, Ben Chehida A, Abdelmoula S.
Tunis Med. 2024 May 5;102(5):284-288. doi: 10.62438/tunismed.v102i5.4792.
PMID:38801286
Methylmalonic Acidemia.
Mahmud S, Awais Ul Hassan Shah S, Ali S.
J Coll Physicians Surg Pak. 2015 Jun;25(6):462-4.
PMID:26101005
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship.
Booth FA, Haworth JC, Dilling LA, Perry TL, Greenberg CR, Seargeant LE, Penn AM, Rhead WJ.
J Pediatr. 1989 Jul;115(1):81-8. doi: 10.1016/s0022-3476(89)80333-6.
PMID:2738799
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.
Chandler RJ, Venditti CP.
J Inherit Metab Dis. 2024 Jan;47(1):63-79. doi: 10.1002/jimd.12665. Epub 2023 Aug 7.
PMID:37530705
Urea cycle disorders.
Burton BK.
Clin Liver Dis. 2000 Nov;4(4):815-30, vi. doi: 10.1016/s1089-3261(05)70143-4.
PMID:11232359
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.
Perry TL, Hansen S, Booth FA, Penn AM, Jones K, Dilling LA.
J Inherit Metab Dis. 1989;12(1):23-32. doi: 10.1007/BF01805527.
PMID:2501579
Glutamic acidemia.
Teijema HL, Brubakk AM, van Gelderen HH, Ruys JH.
Monogr Hum Genet. 1978;9:75-9. doi: 10.1159/000401613.
PMID:732854
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.
Lim YT, Mankad K, Kinali M, Tan AP.
Neuropediatrics. 2020 Feb;51(1):6-21. doi: 10.1055/s-0039-1698422. Epub 2019 Oct 21.
PMID:31634934
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