Found: 12
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DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFECT.
- Published in:
- Acta Paediatrica, 1983, v. 72, n. 6, p. 943, doi. 10.1111/j.1651-2227.1983.tb09849.x
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- Publication type:
- Article
EFFECT OF ORAL LIPID ADMINISTRATION ON GLUCOSE HOMEOSTASIS IN SMALL-FOR-GESTATIONAL-AGE INFANTS.
- Published in:
- Acta Paediatrica, 1982, v. 71, n. 6, p. 923, doi. 10.1111/j.1651-2227.1982.tb09550.x
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- Publication type:
- Article
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
- Published in:
- 1994
- By:
- Publication type:
- case study
A new case of prenatal diagnosis of isovaleric acidaemia.
- Published in:
- Prenatal Diagnosis, 1991, v. 11, n. 12, p. 921, doi. 10.1002/pd.1970111207
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- Publication type:
- Article
Combined liver-kidney transplantation in primary hyperoxaluria type 1.
- Published in:
- European Journal of Pediatrics, 1999, v. 158, n. 14, p. S075, doi. 10.1007/PL00014327
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- Publication type:
- Article
Combined liver-kidney transplantation in primary hyperoxaluria type 1.
- Published in:
- 1999
- By:
- Publication type:
- journal article
N-acetylaspartylglutamate in Canavan disease: an adverse effector?
- Published in:
- 1999
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- Publication type:
- journal article
Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 413, doi. 10.1023/A:1010577207726
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- Publication type:
- Article
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 345, doi. 10.1023/A:1005623028638
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- Publication type:
- Article
Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 286, doi. 10.1023/A:1005567030040
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- Publication type:
- Article
Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 687, doi. 10.1023/A:1005453105414
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- Publication type:
- Article
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 411, doi. 10.1023/A:1005306818025
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- Publication type:
- Article