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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 1/2001

Ausgabe 1/2001

Inhaltsverzeichnis ( 16 Artikel )

01.02.2001 | Ausgabe 1/2001

Phenylketonuria: Tyrosine beyond the phenylalanine-restricted diet

F. J. van Spronsen, P. G. A. Smit, R. Koch

01.02.2001 | Ausgabe 1/2001

Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes

M. Potter, J. W. Hammond, K.-G. Sim, A. K. Green, B. Wilcken

01.02.2001 | Ausgabe 1/2001

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

I. Wittig, P. Augstein, G. K. Brown, T. Fujii, A. Rötig, P. Rustin, A. Munnich, P. Seibel, D. Thorburn, B. Wissinger, K. Tamboom, A. Metspalu, E. Lamantea, M. Zeviani, M. S. Wehnert

01.02.2001 | Ausgabe 1/2001

Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone

T. Lerman-Sagie, P. Rustin, D. Lev, M. Yanoov, E. Leshinsky-Silver, A. Sagie, T. Ben-Gal, A. Munnich

01.02.2001 | Ausgabe 1/2001

Features of carnitine palmitoyltransferase type I deficiency

S. E. Olpin, J. Allen, J. R. Bonham, S. Clark, P. T. Clayton, J. Calvin, M. Downing, K. Ives, S. Jones, N. J. Manning, R. J. Pollitt, S. J. Standing, M. S. Tanner

01.02.2001 | Ausgabe 1/2001

Genetic analysis of phytosterolaemia

M. Togo, T. Toda, L. A. Nguyen, S. Kubota, K. Tsukamoto, H. Satoh, M. Hara, N. Iso-o, H. Noto, S. Kimura, K. Nakahara, Y. Seyama, Y. Hashimoto

01.02.2001 | Ausgabe 1/2001

Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile

K. G. Sim, V. Wiley, K. Carpenter, B. Wilcken

01.02.2001 | Ausgabe 1/2001

Survival of two patients with severe δ-aminolaevulinic acid dehydratase deficiency porphyria

U. Gross, S. Sassa, T. Arndt, M. O. Doss

01.02.2001 | Ausgabe 1/2001

Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis

M. S. Salman, J. T. R. Clarke, G. Midroni, M. B. Waxman

01.02.2001 | Ausgabe 1/2001

Congenital porto–left renal venous shunt as a cause of galactosaemia

N. Mizoguchi, N. Sakura, H. Ono, K. Naito, M. Hamakawa

01.02.2001 | Ausgabe 1/2001

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation

P. Briones, M. Girós, V. Martinez

01.02.2001 | Ausgabe 1/2001

A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity

I. Barić, V. Sarnavka, K. Fumić, M. Maradin, D. Begović, J. P. N. Ruiter, R. J. A. Wanders

01.02.2001 | Ausgabe 1/2001

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations

M. J. Coll, C. Antón, A. Chabás

01.02.2001 | Ausgabe 1/2001

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis

J. Rudolfová, R. Slováčková, M. Trbušek, K. Pešková, S. Št'astná, L. Kozák

01.02.2001 | Ausgabe 1/2001

Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency

B. Herzog, A. A. M. Morris, C. Saunders, K. Eschrich

01.02.2001 | Ausgabe 1/2001

Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology

E. Gilbert-Barness, L. Barness

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