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Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 2/1999

Ausgabe 2/1999

Inhaltsverzeichnis ( 23 Artikel )

01.04.1999 | Ausgabe 2/1999

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

M. H. Baslow

01.04.1999 | Ausgabe 2/1999

Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency

M. R. Mardach, K. Roe, S. D. Cederbaum

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

Molecular heterogeneity of Krabbe disease

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

Multifocal bursitis in a patient with homozygous homocystinuria

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

01.04.1999 | Ausgabe 2/1999

Adult Sandhoff disease presenting with chronic diarrhoea

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

01.04.1999 | Ausgabe 2/1999

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

E. Mayatepek, A. Schulze

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

Carbohydrate-deficient glycoprotein syndrome type 2

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

01.04.1999 | Ausgabe 2/1999

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

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

01.04.1999 | Ausgabe 2/1999

Primary pneumococcal peritonitis associated with tyrosinaemia type 1

D. S. Gill, A. P. Lipscomb

01.04.1999 | Ausgabe 2/1999

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

S. Cunningham, P. M. Crofton, T. G. Marshall, D. R. Fitzpatrick

01.04.1999 | Ausgabe 2/1999

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

H. Peters, M. Cleary, A. Boneh

01.04.1999 | Ausgabe 2/1999

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

J. W. H. Custers, B. T. Poll-The, M. Duran, J. B. C. de Klerk, C. S. P. M. Uiterwaal, P. J. M. Helders

01.04.1999 | Ausgabe 2/1999

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

D. W. Johnson

01.04.1999 | Ausgabe 2/1999

Enzyme replacement therapy in type III Gaucher disease

A. Tylki-szymańska, B. Czartoryska

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