Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country-Reference-Cited by-同舟云学术

Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country

Published:2016-10-06 Issue:1 Volume:8 Page:9-15
ISSN:1868-310X
Container-title:Journal of Community Genetics
language:en
Short-container-title:J Community Genet

Author:

De Castro-Hamoy Leniza G.,Chiong Mary Anne D.,Estrada Sylvia C.,Cordero Cynthia P.

Funder

Self-funded

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Public Health, Environmental and Occupational Health,Epidemiology

Link

http://link.springer.com/content/pdf/10.1007/s12687-016-0281-5.pdf

Reference19 articles.

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2. Capistrano-Estrada S, Jomento CM (2009) Detection of maple syrup urine disease on newborn screening second tier testing for phenylketonuria. Acta Medica Philippina 43(2):26–28

3. Chuang D, Shih V (2001) Maple syrup urine disease (branched chain ketoaciduria). In: Scriver C, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1971–2006

4. Fraziera DM, Allgeierb C, Homerc C, Marriageb B, Ogatad B, Rohre F, Singhh R (2014) Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab 112(3):210–217. doi: 10.1016/j.ymgme.2014.05.006

5. Lee J, Chiong MA, Estrada SC, Cutiongco-Dela Paz EM, Silao CL, Padilla CD (2008) Maple syrup urine disease (MSUD)—clinical profile of 47 Filipino patients. J Inherit Metab Dis 31(Suppl 2):S281–S285. doi: 10.1007/s10545-008-0859-0

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