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Inborn errors of amino acid metabolism. The best strategy for their diagnosis.
- Published in:
- 1992
- By:
- Publication type:
- journal article
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.
- Published in:
- British Journal of Dermatology, 1994, v. 131, n. 1, p. 93, doi. 10.1111/j.1365-2133.1994.tb08463.x
- By:
- Publication type:
- Article
Bile acids in peroxisomal disorders.
- Published in:
- European Journal of Clinical Investigation, 1987, v. 17, n. 5, p. 386, doi. 10.1111/j.1365-2362.1987.tb01131.x
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- Publication type:
- Article
CONGENITAL LACTIC ACIDOSIS, α-KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY.
- Published in:
- Acta Paediatrica, 1982, v. 71, n. 1, p. 167, doi. 10.1111/j.1651-2227.1982.tb09393.x
- By:
- Publication type:
- Article
Neonatal congential lactic acidosis with pyruvte carboxylase deficiency in two siblings.
- Published in:
- Acta Paediatrica, 1976, v. 65, n. 6, p. 717, doi. 10.1111/j.1651-2227.1976.tb18009.x
- By:
- Publication type:
- Article
NEONATAL CONGENITAL LACTIC ACIDOSIS WITH PYRUVATE CARBOXYLASE DEFICIENCY IN TWO SIBLINGS.
- Published in:
- Acta Paediatrica, 1976, v. 65, n. 5, p. 717, doi. 10.1111/j.1651-2227.1976.tb04960.x
- By:
- Publication type:
- Article
HEREDITARY ORNITHINE TRANSCARBAMYLASE DEFICIENCY.
- Published in:
- Acta Paediatrica, 1975, v. 64, n. 3, p. 464, doi. 10.1111/j.1651-2227.1975.tb03866.x
- By:
- Publication type:
- Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
- Published in:
- 2000
- By:
- Publication type:
- journal article
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
- Published in:
- 1999
- By:
- Publication type:
- journal article
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 12, p. 1160, doi. 10.1002/(SICI)1097-0223(199912)19:12<1160::AID-PD712>3.0.CO;2-2
- By:
- Publication type:
- Article
USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 5, p. 419, doi. 10.1002/(SICI)1097-0223(199605)16:5<419::AID-PD872>3.0.CO;2-7
- By:
- Publication type:
- Article
Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia.
- Published in:
- 1990
- By:
- Publication type:
- journal article
Neonatal Hyperinsulinemic Hypoglycemia: Heterogeneity of the Syndrome and Keys for Differential Diagnosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 5, p. 1455, doi. 10.1210/jc.83.5.1455
- By:
- Publication type:
- Article
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 411, doi. 10.1007/s10545-012-9509-7
- By:
- Publication type:
- Article
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 82, doi. 10.1007/PL00013810
- By:
- Publication type:
- Article
Liver transplantation in urea cycle disorders.
- Published in:
- European Journal of Pediatrics, 1999, v. 158, n. 14, p. S055, doi. 10.1007/PL00014323
- By:
- Publication type:
- Article
Liver transplantation in maple syrup urine disease.
- Published in:
- European Journal of Pediatrics, 1999, v. 158, n. 14, p. S060, doi. 10.1007/PL00014324
- By:
- Publication type:
- Article
Liver transplantation in propionic acidaemia.
- Published in:
- European Journal of Pediatrics, 1999, v. 158, n. 14, p. S065, doi. 10.1007/PL00014325
- By:
- Publication type:
- Article
Liver transplantation in mitochondrial respiratory chain disorders.
- Published in:
- European Journal of Pediatrics, 1999, v. 158, n. 14, p. S081, doi. 10.1007/PL00014328
- By:
- Publication type:
- Article
Liver transplantation in maple syrup urine disease.
- Published in:
- 1999
- By:
- Publication type:
- journal article
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Muscular origin of hyperammonaemia.
- Published in:
- 1998
- By:
- Publication type:
- case study
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria.
- Published in:
- 1998
- By:
- Publication type:
- journal article
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1-C fatty acid breath test using bolus technique.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, p. S78, doi. 10.1007/PL00014278
- By:
- Publication type:
- Article
Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 308, doi. 10.1007/s10545-008-0854-5
- By:
- Publication type:
- Article
Leukoencephalopathies associated with inborn errors of metabolism in adults.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 295, doi. 10.1007/s10545-008-0778-0
- By:
- Publication type:
- Article
Epilepsy and inborn errors of metabolism in adults: A diagnostic approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 846, doi. 10.1007/s10545-007-0723-7
- By:
- Publication type:
- Article
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 855, doi. 10.1007/s10545-007-0745-1
- By:
- Publication type:
- Article
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 631, doi. 10.1007/s10545-007-0661-4
- By:
- Publication type:
- Article
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
- Published in:
- 2005
- By:
- Publication type:
- Report
Methylmalonic and propionic acidaemias: Management and outcome.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 415, doi. 10.1007/s10545-005-7056-1
- By:
- Publication type:
- Article
Urea cycle defects: Management and outcome.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 407, doi. 10.1007/s10545-005-0303-7
- By:
- Publication type:
- Article
Dominantly inherited hyperinsulinaemic hypoglycaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 267, doi. 10.1007/s10545-005-7057-0
- By:
- Publication type:
- Article
Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 700, doi. 10.1023/B:BOLI.0000043017.90837.93
- By:
- Publication type:
- Article
Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 1, doi. 10.1023/A:1015195009330
- By:
- Publication type:
- Article
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 819, doi. 10.1023/A:1026760602577
- By:
- Publication type:
- Article
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 805, doi. 10.1023/A:1026708618507
- By:
- Publication type:
- Article
Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 3, p. 197, doi. 10.1023/A:1005675827612
- By:
- Publication type:
- Article
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 45, doi. 10.1023/A:1005646813492
- By:
- Publication type:
- Article
Recognition and management of fatty acid oxidation defects: A series of 107 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 487, doi. 10.1023/A:1005556207210
- By:
- Publication type:
- Article
Defects in activation and transport of fatty acids.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 428, doi. 10.1023/A:1005552106301
- By:
- Publication type:
- Article
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 267, doi. 10.1023/A:1005590223680
- By:
- Publication type:
- Article
The metabolism of phytanic acid and pristanic acid in man: A review.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 697, doi. 10.1023/A:1005476631419
- By:
- Publication type:
- Article
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203
- By:
- Publication type:
- Article
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 463, doi. 10.1023/A:1005314025760
- By:
- Publication type:
- Article