Author:
Ismayilova Naila,MacKinnon Andrew D.,Mundy Helen,Fallon Penny
Publisher
Springer Berlin Heidelberg
Reference9 articles.
1. Brenton JN, Matsumoto JA, Rust RS, Wilson WG (2014) White matter changes in an untreated, newly diagnosed case of classical homocystinuria. J Child Neurol 29(1):88–92
2. Chien YH, Abdenur JE, Barono F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Burgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson W, Wortman S, Yamamoto S, Pao M, Blom HJ (2015) Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis 10:99
3. Devlin AM, Hajipour L, Gholkar A, Fernandes H, Ramesh V, Morris AA (2004) Cerebral edema associated with betaine treatment in classical homocystinuria. J Pediatr 144(4):545–548
4. Morris AAM, Kozich V, Santra S, Andria G, Ben-Omran TIM, Chakrapani AB, Crushell E, Henderson MJ, Hochul M, Huemer M, Janssen MCH, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O’Sullivan S, Pavlikova M, Tavares De Almeida I, Terry A, Yap S, Blom HJ, Chapman KA (2017) Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 40:49–74
5. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G et al (1985) The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 37(1):1–31
Cited by
5 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献