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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 4/2003

Ausgabe 4/2003

Inhaltsverzeichnis ( 14 Artikel )

01.06.2003 | Ausgabe 4/2003

Administration of protein substitute and quality of control in phenylketonuria: A randomized study

A. MacDonald, G. Rylance, P. Davies, D. Asplin, S. K. Hall, I. W. Booth

01.06.2003 | Ausgabe 4/2003

Free use of fruits and vegetables in phenylketonuria

A. Mac Donald, G. Rylance, P. Davies, D. Asplin, S. K. Hall, I. W. Booth

01.06.2003 | Ausgabe 4/2003

Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia

R. Koch, K. D. Moseley, R. Moats, S. Yano, R. Matalon, F. Guttler

01.06.2003 | Ausgabe 4/2003

Plant sterols lower LDL cholesterol without improving endothelial function in prepubertal children with familial hypercholesterolaemia

S. De Jongh, M. N. Vissers, P. Rol, H. D. Bakker, J. J. P. Kastelein, E. S. G. Stroes

01.06.2003 | Ausgabe 4/2003

What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

A. M. Lund, M. A. Dixon, P. Vreken, J. V. Leonard, A. A. M. Morris

01.06.2003 | Ausgabe 4/2003

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

M. A. Vilaseca, L. Vilarinho, P. Zavadakova, E. Vela, E. Cleto, M. Pineda, E. Coimbra, T. Suormala, B. Fowler, V. Kozich

01.06.2003 | Ausgabe 4/2003

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: A cross-sectional and longitudinal study

J. P. Rake, G. Visser, D. Huismans, S. Huitema, E. Van Der Veer, D. A. Piers, G. P. A. Smit

01.06.2003 | Ausgabe 4/2003

High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal disease

N. A. Oey, M. E. J. Den Boer, J. P. N. Ruiter, R. J. A. Wanders, M. Duran, H. R. Waterham, K. Boer, J. A. M. van der Post, F. A. Wijburg

01.06.2003 | Ausgabe 4/2003

Newborn urine screening programme in the province of Quebec: An update of 30 years' experience

C. Auray-Blais, R. Giguére, B. Lemieux

01.06.2003 | Ausgabe 4/2003

A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy

J. -E. Lee, H. -R. Yoon, K. -H. Paik, S. -J. Hwang, J. -W. Shim, Y. -S. Chang, W. -S. Park, A. W. Strauss, D. K. Jin

01.06.2003 | Ausgabe 4/2003

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

A. Fiumara, A. B. P. van Kuilenburg, U. Caruso, C. Nucifora, E. Marzullo, R. Barone, C. Meli, A. H. van Gennip

01.06.2003 | Ausgabe 4/2003

Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

A. M. Lund, M. A. Dixon, P. Vreken, J. V. Leonard, A. A. M. Morris

01.06.2003 | Ausgabe 4/2003

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

M. Ries, E. Mengel, G. Kutschke, K. S. Kim, F. Birklein, F. Krummenauer, M. Beck

01.06.2003 | Ausgabe 4/2003

Trimethylamine and odorous sweat

S. C. Mitchell, R. L. Smith

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