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:

Read, Andrew

Publication type:

Book Review

Lysosomal Storage Disease: Aspartylglycosaminuria. Edited by Ilkka Monenen and Nathan N. Aronson.

Published in:

1998

By:

Cooper, Alan

Publication type:

Book Review

Atlas of Metabolic Diseases. William L. Nyhan and Pinar T. Ozand.

Published in:

1998

By:

Addison, G.

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:

Vreken, P.;
Rusch, H.;
Huijben, K.;
Wevers, R.

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:

Sartorato, E.;
Reis, F.;
Norato, D.;
Hackel, C.

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:

Hüner, G.;
Podskarbi, T.;
Schütz, M.;
Baykal, T.;
Şarbat, G.;
Shin, Y. S.;
Demirkol, M.

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:

Al-Essa, M.;
Rashed, M.;
Ozand, P.

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:

Sewell, A.;
Herwig, J.;
Wiegratz, I.;
Lehnert, W.;
Niederhoff, H.;
Song, X.-Q.;
Kondo, N.;
Fukao, T.

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:

Shoji, Y.;
Takahashi, T.;
Sato, W.;
Shoji, Ya.;
Takada, G.

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:

Artan, R.;
van Diggelen, O.;
Huijmans, J.

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:

Bonioli, E.;
Di Stefano, A.;
Peri, V.;
Caruso, U.;
Cerone, R.;
Lamantea, E.;
Taroni, F.;
Bellini, C.

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:

Blau, N.;
Thöny, B.;
Renneberg, A.;
Arnold, L.;
Hyland, K.

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:

Kure, S.;
Maeda, T.;
Fukushima, N.;
Ohura, T.;
Takahashi, K.;
Nishikawa, T.;
Matsubara, Y.;
Izumi, T.;
Narisawa, K.

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:

Müller, G.;
Baumgärtner, W.;
Moritz, A.;
Sewell, A.;
Kustermann-Kuhn, B.

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:

Sales Marques, J.

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:

Moore, S.;
Haites, N.;
Broom, I.;
White, I.;
Coleman, R.;
Pourfarzam, M.;
Morris, A.

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:

Lerman-Sagie, T.;
Meshulach, I.;
Gutman, A.

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:

Tang, N.;
Hui, J.;
Law, L.;
To, K.;
Ruiter, J.;
IJlst, L.;
Wanders, R.;
Ho, C.;
Fok, T.;
Yuen, P.;
Hjelm, N.

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:

Weber, B.;
van de Kamp, J.;
Kleijer, W.;
Guo, X.-H.;
Blanch, L.;
van Diggelen, O.;
Wevers, R.;
Poorthuis, B.;
Hopwood, J.

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:

Venizelos, N.;
von Döbeln, U.;
Hagenfeldt, L.

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:

Kirches, E.;
Winkler, K.;
Warich-Kirches, M.;
Szibor, R.;
Wien, F.;
Kunz, W.;
von Bossanyi, P.;
Bajaj, P.;
Dietzmann, K.

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:

Costa, C.;
Dorland, L.;
Tavares de Almeida, I.;
Jakobs, C.;
Duran, M.;
Poll-The, B.

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:

Gregg, A.;
Warman, A.;
Thorburn, D.;
O'Brien, W.

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:

Pöge, A.;
Bäumann, K.;
Müller, E.;
Leichsenring, M.;
Schmidt, H.;
Bremer, H.

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:

Guldberg, P.;
Henriksen, K.;
Lou, H.;
Güttler, F.

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:

Leuzzi, V.;
Rinalduzzi, S.;
Chiarotti, F.;
Garzia, P.;
Trasimeni, G.;
Accornero, N.

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:

Alano, A.;
Almashanu, S.;
Chinsky, J.;
Costeas, P.;
Blitzer, M.;
Wulfsberg, E.;
Cowan, T.

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:

Barić, I.;
Zschocke, J.;
Christensen, E.;
Duran, M.;
Goodman, S.;
Leonard, J.;
Müller, E.;
Morton, D.;
Superti-Furga, A.;
Hoffmann, G.

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:

Chinnery, P.;
Turnbull, D.

Publication type:

Article