Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 4
Results: 29
Genetic Mapping of Disease Genes. Edited by I. H. Pawlowitzki, J. H. Edwards and E. A. Thompson.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
Lysosomal Storage Disease: Aspartylglycosaminuria. Edited by Ilkka Monenen and Nathan N. Aronson.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
Atlas of Metabolic Diseases. William L. Nyhan and Pinar T. Ozand.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 447, doi. 10.1023/A:1005343716983
- By:
- Publication type:
- Article
A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 447, doi. 10.1023/A:1005391600145
- By:
- Publication type:
- Article
Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose-6-phosphatase gene.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 445, doi. 10.1023/A:1005339616074
- By:
- Publication type:
- Article
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 443, doi. 10.1023/A:1005387532004
- By:
- Publication type:
- Article
Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 441, doi. 10.1023/A:1005335515166
- By:
- Publication type:
- Article
Acute life-threatening event with rhabdomyolysis after starting on high-dose pyridoxine therapy in an infant with homocystinuria.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 439, doi. 10.1023/A:1005383431095
- By:
- Publication type:
- Article
Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 437, doi. 10.1023/A:1005331414257
- By:
- Publication type:
- Article
Fumarate hydratase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 435, doi. 10.1023/A:1005379330187
- By:
- Publication type:
- Article
Dihydropteridine reductase deficiency localized to the central nervous system.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 433, doi. 10.1023/A:1005327313348
- By:
- Publication type:
- Article
A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 431, doi. 10.1023/A:1005375229278
- By:
- Publication type:
- Article
Biochemical findings in a breeding colony of Alaskan Huskies suffering from GM<sub>1</sub>-gangliosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 430, doi. 10.1023/A:1005323212440
- By:
- Publication type:
- Article
Dilated cardiomyopathy caused by plasma membrane carnitine transport defect.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 428, doi. 10.1023/A:1005371028370
- By:
- Publication type:
- Article
Acylcarnitine analysis in the investigation of myopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 427, doi. 10.1023/A:1005319011531
- By:
- Publication type:
- Article
Transient ‘primary’ carnitine deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 425, doi. 10.1023/A:1005366927461
- By:
- Publication type:
- Article
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 423, doi. 10.1023/A:1005314910623
- By:
- Publication type:
- Article
Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 416, doi. 10.1023/A:1005362826552
- By:
- Publication type:
- Article
Fatty acid oxidation in fibroblasts from patients with defects in β-oxidation and in the respiratory chain.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 409, doi. 10.1023/A:1005310809714
- By:
- Publication type:
- Article
mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 400, doi. 10.1023/A:1005306725644
- By:
- Publication type:
- Article
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 391, doi. 10.1023/A:1005354624735
- By:
- Publication type:
- Article
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 382, doi. 10.1023/A:1005302607897
- By:
- Publication type:
- Article
Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 373, doi. 10.1023/A:1005350523826
- By:
- Publication type:
- Article
Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 365, doi. 10.1023/A:1005398406988
- By:
- Publication type:
- Article
Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 351, doi. 10.1023/A:1005346422918
- By:
- Publication type:
- Article
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 341, doi. 10.1023/A:1005342306080
- By:
- Publication type:
- Article
Diagnosis and management of glutaric aciduria type I.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 326, doi. 10.1023/A:1005390105171
- By:
- Publication type:
- Article
Annotation: Mitochondrial genotype and clinical phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 321, doi. 10.1023/A:1005357221101
- By:
- Publication type:
- Article