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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 3/2001

Ausgabe 3/2001

Inhaltsverzeichnis ( 20 Artikel )

01.06.2001 | Ausgabe 3/2001

Management of neuronopathic Gaucher disease: A European consensus

A. Vellodi, B. Bembi, T. B. de Villemeur, T. Collin-Histed, A. Erikson, E. Mengel, A. Rolfs, A. Tylki-Szymanska

01.06.2001 | Ausgabe 3/2001

Clinical course and biochemistry of sialuria

G. M. Enns, R. Seppala, T. J. Musci, K. Weisiger, L. D. Ferrell, D. A. Wenger, W. A. Gahl, S. Packman

01.06.2001 | Ausgabe 3/2001

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β-oxidation defects

W. Onkenhout, V. Venizelos, H. R. Scholte, J. B. C. de Klerk, B. J. H. M. Poorthuis

01.06.2001 | Ausgabe 3/2001

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping

M. Skrygan, B. Bartholomé, L. Bonafé, N. Blau, K. Bartholomé

01.06.2001 | Ausgabe 3/2001

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

L. J. M. Spaapen, J. A. Bakker, C. Velter, W. Loots, M. E. Rubio-Gonzalbo, P. P. Forget, L. Dorland, T. J. De Koning, B. T. Poll-The, H. K. Ploos Van Amstel, J. Bekhof, N. Blau, M. Duran

01.06.2001 | Ausgabe 3/2001

Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria

R. Artuch, C. Colomé, M. A. Vilaseca, C. Sierra, F. J. Cambra, N. Lambruschini, J. Campistol

01.06.2001 | Ausgabe 3/2001

Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency

H. S. Kalkanoğlu, T. Coşkun, S. D. Aydoğdu, A. Tokatli, A. Gürgey

01.06.2001 | Ausgabe 3/2001

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry

S. Stadler, K. Gempel, I. Bieger, B. F. Pontz, K.-D. Gerbitz, M. F. Bauer, S. Hofmann

01.06.2001 | Ausgabe 3/2001

Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27)

S. Sugama, A. Kimura, W. Chen, S. Kubota, Y. Seyama, N. Taira, Y. Eto

01.06.2001 | Ausgabe 3/2001

Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community

L. D. Love-Gregory, J. A. Dyer, J. Grasela, R. E. Hillman, C. L. Phillips

01.06.2001 | Ausgabe 3/2001

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities

E. Riudor, J. A. Arranz, R. Alvarez, K. Carlsson, M. del Toro, F. Salmerón, F. Piñol, E. Ristoff, M. Sentís, A. Larsson

01.06.2001 | Ausgabe 3/2001

Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency

H.-R. Yoon, A. W. Strauss, H.-W. Yoo

01.06.2001 | Ausgabe 3/2001

Ketoacidosis: an unusual presentation of MELAS

J. Strachan, A. McLellan, M. Kirkpatrick, R. Hume, D. Mechan

01.06.2001 | Ausgabe 3/2001

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D

M. Di Rocco, U. Caruso, H. R. Waterham, P. Picco, A. Loy, R. J. A. Wanders

01.06.2001 | Ausgabe 3/2001

Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

M. Tsimaratos, I. Kone-Paut, P. Divry, N. Philip, B. Chabrol

01.06.2001 | Ausgabe 3/2001

Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser

J. E. Hoover-Fong, M. T. Geraghty, G. V. Raymond, G. H. Thomas

01.06.2001 | Ausgabe 3/2001

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency

S. Albers, H. L. Levy, M. Irons, A. W. Strauss, D. Marsden

01.06.2001 | Ausgabe 3/2001

Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib

A. Boneh, A. W. Auldist, D. E. M. Francis, S. Casanelia, L. Warwick, K. Tiedemann

01.06.2001 | Ausgabe 3/2001

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome

G. Tóth, É. Morava, J. Bene, J. J. M. Selhorst, H. Overmars, P. Vreken, J. Molnár, V. Farkas, B. Melegh

01.06.2001 | Ausgabe 3/2001

Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency

O. N. Elpeleg, S. H. Korman

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