Maple syrup urine disease (MSUD) - Clinical profile of 47 Filipino patients

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Lee, J Y ^a   Chiong, M A ^b   Estrada, S C ^b,c   Cutiongco De La Paz, E M ^b,c   Silao, C L T ^b,c   Padilla, C D ^b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

^c UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; ISOLEUCINE; KETONE; LEUCINE;

ARTICLE; ASIAN; BLOOD; EARLY DIAGNOSIS; ETHNOLOGY; FEMALE; HUMAN; INFANT; MALE; MAPLE SYRUP URINE DISEASE; METHODOLOGY; MORTALITY; NEWBORN; NEWBORN SCREENING; PERITONEAL DIALYSIS; PHENOTYPE; PHILIPPINES; PREDICTIVE VALUE; RETROSPECTIVE STUDY; THIN LAYER CHROMATOGRAPHY; TIME; TREATMENT OUTCOME; URINE;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL MARKERS; CHROMATOGRAPHY, THIN LAYER; EARLY DIAGNOSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ISOLEUCINE; KETONES; LEUCINE; MALE; MAPLE SYRUP URINE DISEASE; NEONATAL SCREENING; PERITONEAL DIALYSIS; PHENOTYPE; PHILIPPINES; PREDICTIVE VALUE OF TESTS; RETROSPECTIVE STUDIES; TIME FACTORS; TREATMENT OUTCOME;

EID: 84878595561     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0859-0     Document Type: Article

References (5)

1. Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1971-2006.
2. Morton DH, Strauss KA, Robinson DL, Puffenberg EG, Kelley RI (2002) Diagnosis and management of maple syrup urine disease: a study of 36 patients. Pediatrics 109:999-1008. doi:10.1542/peds.109.6.999.
3. Padilla CD, Masangkay SA (1992) Maple syrup urine disease: report of five cases. The Philippine Children's Medical Center Journal 1:111-114.
4. Padilla CD, Silao CLT, Lee JY (2001) Maple syrup urine disease: a report of 26 cases in the Philippines. In: Poh San L, Yap EPH, eds. Frontiers in Human Genetics Diseases and Technologies. Singapore: World Scientific Publishing Co., 185-193.
5. Silao CL, Padila CD, Matsuo M (2004). A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino Maple syrup urine disease. Mol Genet Metab 81:100-104. doi:10.1016/j.ymgme.2003.10.006.