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Quoted phrase not found in phrase index: "Methylcobalamin deficiency type cblE"
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An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. Kasapkara ÇS, et al. Turk J Pediatr. 2019;61(2):282-285. doi: 10.24953/turkjped.2019.02.021. Turk J Pediatr. 2019. PMID: 31951343 Free article.
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) def …
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. …
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
Vilaseca MA, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V. Vilaseca MA, et al. J Inherit Metab Dis. 2003;26(4):361-9. doi: 10.1023/a:1025159103257. J Inherit Metab Dis. 2003. PMID: 12971424
Patients with the cblE type of homocystinuria usually present with megaloblastic anaemia, feeding difficulties, developmental delay and cerebral atrophy. ...Enzymatic analysis, complementation studies and clearly reduced production of methylcobalamin from 57C …
Patients with the cblE type of homocystinuria usually present with megaloblastic anaemia, feeding difficulties, developmental …