1 |
Hong Jin Lee. Systematic approach for the diagnosis of IEM in the neonatal period. J KSIMD 2014;14:10-18.
과학기술학회마을
|
2 |
Saudubray JM, Desguerre I, Sedel F, Charpentier C. A clinical approach to inherited metabolic disorders. In Fernandes J, Saudubray JM, van den Berghe G, Walter J, eds. Inborn metabolic Diseases: Diagnosis and Treatment, 4th edn. Berlin: Springer-Verlag, 2006.
|
3 |
Burton BK. Nadler HL. Clinical diagnosis of inborn errors of metabolism in the neonatal period. Pediatrics 1978;61:398-405.
DOI
|
4 |
Goodman SI. Inherited metabolic disease in the newborn: approach to diagnosis and treatment. Enzyme 1987;38:76-9.
DOI
|
5 |
Tada K, Kure S. Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology. J Inherit Metab Dis 1993;16:691-703.
DOI
|
6 |
Chalmers PT, Lawson AH. Organic acids in man, Chapman and hall, 1982, Vol I.
|
7 |
Nyhan WL. Multiple carboxylase deficiency. Int J Biochem 1988;20:363-70.
DOI
ScienceOn
|
8 |
Mahoney MJ. Organic acidemias. Clin Perinatol 1976;3:61-78.
|
9 |
Desnick RJ, Brady R, Barranger J, et. al. Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy. Annals of Int Med 2003;138:338-347.
DOI
ScienceOn
|
10 |
Di mauro S, Bonilla E, Zeviani M, Servidei S, De Vivo DC, Schon EA. Mitochondrial myopathies. J Inherit Metab Dis 1987;10(suppl 1):113-28.
DOI
|
11 |
De Meirleir L. Disorders of pyruvate metabolism. Handb Clin Neurol 2013;113:1667-73.
DOI
ScienceOn
|
12 |
Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E. Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. J Inherit Metab Dis 2010;33:495-500.
DOI
|
13 |
Braverman NE1, D'Agostino MD, Maclean GE. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev 2013;17:187-96.
DOI
ScienceOn
|
14 |
Hommes FA. Inborn errors of fructose metabolism. Am J Clin Nutr 1993;58(5 Suppl):788S-95S.
DOI
|
15 |
Kitagawa T. Hepatorenal tyrosinemia. Proc Jpn Acad Ser B Phys Biol Sci 2012;88:192-200.
DOI
|
16 |
Devictor D, Tissieres P, Afanetti M, Debray D. Acute liver failure in children. Clin Res Hepatol Gastroenterol 2011;35:430-7.
DOI
ScienceOn
|