1 |
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.
|
2 |
Burton BK. Nadler HL. Clinical diagnosis of inborn errors of metabolism in the neonatal period. Pediatrics 1978;61:398-405.
DOI
|
3 |
Goodman SI. Inherited metabolic disease in the newborn: approach to diagnosis and treatment. Enzyme 1987;38:76-9.
|
4 |
Tada K, Kure S. Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology. J Inherit Metab Dis 1993;16:691-703.
DOI
|
5 |
Chalmers PT, Lawson AH. Organic acids in man, Chapman and hall, 1982, Vol I.
|
6 |
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
|
7 |
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
|
8 |
Renaud DL. Leukoencephalopathies associated with macrocephaly. Semin Neurol 2012;32:34-41.
DOI
ScienceOn
|
9 |
Oliveira AR, Valente R, Ramos J, Ventura L. Persistent hyperlactacidaemia: about a clinical case. BMJ Case Rep 2013;22:2013.
|
10 |
Knerr I, Weinhold N, Vockley J, Gibson KM. Advances and challenges in the treatment of branchedchain amino/keto acid metabolic defects. J Inherit Metab Dis 2012;35:29-40.
DOI
|
11 |
Mahoney MJ. Organic acidemias. Clin Perinatol 1976;3:61-78.
|
12 |
Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, et al. Natural history of propionic acidemia. Mol Genet Metab 2012;105:5-9.
DOI
ScienceOn
|
13 |
Hoffmann GF, Kolker S. Defects in amino acid catabolism and the urea cycle. Handb Clin Neurol 2013;113:1755-73.
DOI
ScienceOn
|
14 |
Gordon N. Glutaric aciduria types I and II. Brain Dev 2006;28:136-40.
DOI
ScienceOn
|
15 |
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
|
16 |
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Ketone body metabolism and its defects. J Inherit Metab Dis. 2014 Apr 8. [Epub ahead of print]
|
17 |
De Meirleir L. Disorders of pyruvate metabolism. Handb Clin Neurol 2013;113:1667-73.
DOI
ScienceOn
|
18 |
Rothberg AD, Thomson PD, Andronikou S, Cohen DF. Transient neonatal hyperammonaemia. A case report. S Afr Med J 1982;31;62:175-6.
|
19 |
Nyhan WL. Multiple carboxylase deficiency. Int J Biochem 1988;20:363-70.
DOI
ScienceOn
|
20 |
Hoffmann GF, Kolker S. Defects in amino acid catabolism and the urea cycle. Handb Clin Neurol 2013;113:1755-73.
DOI
ScienceOn
|
21 |
Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, et al. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics 2005;116:757-66.
DOI
ScienceOn
|
22 |
Hommes FA. Inborn errors of fructose metabolism. Am J Clin Nutr 1993;58(5 Suppl):788S-95S.
|
23 |
Kitagawa T. Hepatorenal tyrosinemia. Proc Jpn Acad Ser B Phys Biol Sci 2012;88:192-200.
DOI
|
24 |
Devictor D, Tissieres P, Afanetti M, Debray D. Acute liver failure in children. Clin Res Hepatol Gastroenterol 2011;35:430-7.
DOI
ScienceOn
|