Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 2

Results: 23

Enzyme replacement therapy in type III Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 203, doi. 10.1023/A:1005495229655

By:

Tylki-szymańska, A.;
Czartoryska, B.

Publication type:

Article

Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometry screening method for blood spots.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 201, doi. 10.1023/A:1005443212817

By:

Johnson, D.

Publication type:

Article

Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 200, doi. 10.1023/A:1005491128746

By:

Custers, J.;
Poll-The, B.;
Duran, M.;
de Klerk, J.;
Uiterwaal, C.;
Helders, P.

Publication type:

Article

Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatment.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 198, doi. 10.1023/A:1005439111908

By:

Peters, H.;
Cleary, M.;
Boneh, A.

Publication type:

Article

A case of Menkes syndrome with pyloric stenosis: An effect of copper deficiency on NOS1?

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 197, doi. 10.1023/A:1005487027838

By:

Cunningham, S.;
Crofton, P.;
Marshall, T.;
Fitzpatrick, D.

Publication type:

Article

Primary pneumococcal peritonitis associated with tyrosinaemia type 1.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 195, doi. 10.1023/A:1005434910999

By:

Gill, D.;
Lipscomb, A.

Publication type:

Article

Hormone replacement therapy in galactosaemic twins with ovarian failure and severe osteoporosis.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 194, doi. 10.1023/A:1005482826929

By:

Renner, C.;
Razeghi, S.;
Überall, M.;
Licht, P.;
Wildt, L.;
Dörr, H.;
Hensen, J.;
Schweitzer, S.

Publication type:

Article

Carbohydrate-deficient glycoprotein syndrome type 2.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 192, doi. 10.1023/A:1005422610091

By:

Engelhardt, H.;
Staudt, M.;
Hässler, A.;
Holzbach, U.;
Freisinger, P.;
Krägeloh-mann, I.

Publication type:

Article

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 191, doi. 10.1023/A:1005470524203

By:

Van Kuilenburg, A.;
Vreken, P.;
Riva, D.;
Botteon, G.;
Abeling, N.;
Bakker, H.;
Van Gennip, A.

Publication type:

Article

Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 189, doi. 10.1023/A:1005418507365

By:

Mayatepek, E.;
Schulze, A.

Publication type:

Article

Adult Sandhoff disease presenting with chronic diarrhoea.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 187, doi. 10.1023/A:1005414423295

By:

Gomez-Brouchet, A.;
Cintas, P.;
Lagier, E.;
Voisin, T.;
Delisle, M.;
Fabre, N.;
Gérand, G.;
Salvayre, R.;
Levade, T.

Publication type:

Article

Multifocal bursitis in a patient with homozygous homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 185, doi. 10.1023/A:1005462322386

By:

Haedecke, C.;
Anders, A.-J.;
Kellner, H.;
Weiss, N.

Publication type:

Article

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 174, doi. 10.1023/A:1005406205548

By:

Bonham, J.;
Guthrie, P.;
Downing, M.;
Allen, J.;
Tanner, M.;
Sharrard, M.;
Rittey, C.;
Land, J.;
Fensom, A.;
O'Neill, D.;
Duley, J.;
Fairbanks, L.

Publication type:

Article

The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 163, doi. 10.1023/A:1005402020569

By:

Triepels, R.;
Smeitink, J.;
Loeffen, J.;
Smeets, R.;
Buskens, C.;
Trijbels, F.;
Heuvel, L.

Publication type:

Article

Molecular heterogeneity of Krabbe disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 155, doi. 10.1023/A:1005449919660

By:

Fu, L.;
Inui, K.;
Nishigaki, T.;
Tatsumi, N.;
Tsukamoto, H.;
Kokubu, C.;
Muramatsu, T.;
Okada, S.

Publication type:

Article

Glycogen storage disease type 1a in three siblings with the G270V mutation.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 149, doi. 10.1023/A:1005445802822

By:

Parvari, R.;
Isam, J.;
Moses, S.

Publication type:

Article

Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 139, doi. 10.1023/A:1005493701913

By:

Hutcheson, A.;
Murdoch-Davis, C.;
Green, A.;
Preece, M.;
Allen, J.;
Holton, J.;
Rylance, G.

Publication type:

Article

Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 132, doi. 10.1023/A:1005489617843

By:

Herzog, B.;
Wendel, U.;
Morris, A.;
Eschrich, K.

Publication type:

Article

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 123, doi. 10.1023/A:1005437616934

By:

Gillingham, M.;
Van Calcar, S.;
Ney, D.;
Wolff, J.;
Harding, C.

Publication type:

Article

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 115, doi. 10.1023/A:1005485500096

By:

Touma, E.;
Suormala, T.;
Baumgartner, E.;
Gerbaka, B.;
Ogier de Baulny, H.;
Loiselet, J.

Publication type:

Article

4,5-Dimethyl-3-hydroxy-2[5H]-furanone (sotolone) — The odour of maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 107, doi. 10.1023/A:1005433516026

By:

Podebrad, F.;
Heil, M.;
Reichert, S.;
Mosandl, A.;
Sewell, A.;
Böhles, H.

Publication type:

Article

Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 102, doi. 10.1023/A:1005481431955

By:

Mardach, M.;
Roe, K.;
Cederbaum, S.

Publication type:

Article

Hypothesis: Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprentice.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 99, doi. 10.1023/A:1005437915117

By:

Baslow, M.

Publication type:

Article