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Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 5/2005

Ausgabe 5/2005

Inhaltsverzeichnis ( 28 Artikel )

01.09.2005 | Ausgabe 5/2005

Body composition in young adults with inborn errors of protein metabolism—A pilot study

G. Wilcox, B. J. G. Strauss, D. E. M. Francis, H. Upton, A. Boneh

01.09.2005 | Ausgabe 5/2005

Behavioural factors related to metabolic control in patients with phenylketonuria

M. R. Crone, F. J. van Spronsen, K. Oudshoorn, J. Bekhof, G. van Rijn, P. H. Verkerk

01.09.2005 | Ausgabe 5/2005

Living with phenylketonuria: Perspectives of patients and their families

C. Bilginsoy, N. Waitzman, C. O. Leonard, S. L. Ernst

01.09.2005 | Ausgabe 5/2005

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

J. L. K. Van Hove, K. Vande Kerckhove, J. B. Hennermann, V. Mahieu, P. Declercq, S. Mertens, M. De Becker, P. S. Kishnani, J. Jaeken

01.09.2005 | Ausgabe 5/2005

A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD)

P. Hallam, M. Lilburn, P. J. Lee

01.09.2005 | Ausgabe 5/2005

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

M. A. Cleary, L. Dorland, T. J. de Koning, B. T. Poll-The, M. Duran, R. Mandell, V. E. Shih, R. Berger, S. E. Olpin, G. T. N. Besley

01.09.2005 | Ausgabe 5/2005

A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia

K. Ihara, K. Miyako, M. Ishimura, R. Kuromaru, H.-Y. Wang, K. Yasuda, T. Hara

01.09.2005 | Ausgabe 5/2005

Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats

B. Plecko, H. Hoeger, C. Jakobs, E. Struys, C. Stromberger, M. Leschnik, A. Muehl, S. Stoeckler-Ipsiroglu

01.09.2005 | Ausgabe 5/2005

Clinical evaluation of a portable lactate meter in type I glycogen storage disease

A. C. Saunders, H. A. Feldman, C. E. Correia, D. A. Weinstein

01.09.2005 | Ausgabe 5/2005

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

E. Morava, S. B. Wortmann, H. Zweers van Essen, R. Liebrand van Sambeek, R. Wevers, O. P. van Diggelen

01.09.2005 | Ausgabe 5/2005

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

L. J. M. Spaapen, J. A. Bakker, S. B. van der Meer, H. J. Sijstermans, R. A. Steet, R. A. Wevers, J. Jaeken

01.09.2005 | Ausgabe 5/2005

High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease

A. C. Hauser, A. Gessl, M. Lorenz, T. Voigtländer, M. Födinger, G. Sunder-Plassmann

01.09.2005 | Ausgabe 5/2005

Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy

G. Ciana, R. Addobbati, G. Tamaro, A. Leopaldi, M. Nevyjel, L. Ronfani, L. Vidoni, M. G. Pittis, B. Bembi

01.09.2005 | Ausgabe 5/2005

A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

O. P. van Diggelen, Ya. V. Voznyi, J. L. M. Keulemans, K. Schoonderwoerd, J. Ledvinova, E. Mengel, M. Zschiesche, R. Santer, K. Harzer

01.09.2005 | Ausgabe 5/2005

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

S. Tomatsu, M. A. Gutierrez, T. Ishimaru, O. M. Peña, A. M. Montaño, H. Maeda, S. Velez-Castrillon, T. Nishioka, A. A. Fachel, A. Cooper, M. Thornley, E. Wraith, L. A. Barrera, L. S. Laybauer, R. Giugliani, I. V. Schwartz, G. Schulze Frenking, M. Beck, S. G. Kircher, E. Paschke, S. Yamaguchi, K. Ullrich, K. Isogai, Y. Suzuki, T. Orii, A. Noguchi

01.09.2005 | Ausgabe 5/2005

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

C. E. Beesley, M. Jackson, E. P. Young, A. Vellodi, B. G. Winchester

01.09.2005 | Ausgabe 5/2005

mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk

A. Goios, C. Nogueira, C. Pereira, L. Vilarinho, A. Amorim, L. Pereira

01.09.2005 | Ausgabe 5/2005

Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family

K. R. Allen, S. D. Whatley, T. J. Degg, J. H. Barth

01.09.2005 | Case Report | Ausgabe 5/2005

Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

S. Wendt, C. Whybra, C. Kampmann, E. Teichmann, M. Beck

01.09.2005 | Ausgabe 5/2005

Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II

Y. Kato, K. Ihara, K. Miyako, T. Kuhara, Y. Inoue, T. Hara

01.09.2005 | Case Report | Ausgabe 5/2005

Successful pregnancy in a treated patient with biotinidase deficiency

C. J. Hendriksz, M. A. Preece, A. Chakrapani

01.09.2005 | Case Report | Ausgabe 5/2005

Dihydropyrimidine dehydrogenase deficiency presenting at birth

N. A. Al-Sanna’a, A. B. P. Van Kuilenburg, T. M. Atrak, M. A. Abdul Jabbar, A. H. Van Gennip

01.09.2005 | Short Report | Ausgabe 5/2005

Bone marrow transplantation correcting β-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis

J. P. H. Shield, J. Stone, C. G. Steward

01.09.2005 | Short Report | Ausgabe 5/2005

Fumarase deficiency presenting with periventricular cysts

J. Loeffen, R. Smeets, T. Voit, G. Hoffmann, J. Smeitink

01.09.2005 | Short Report | Ausgabe 5/2005

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies

S. Funghini, A. Morrone, E. Pasquini, E. Zammarchi, M. A. Donati

01.09.2005 | Short Report | Ausgabe 5/2005

The ratio of α-galactosidase to β-glucuronidase activities in dried blood for the identification of female Fabry disease patients

Z. Lukacs, A. Keil, A. Kohlschütter, M. Beck, E. Mengel

01.09.2005 | Short Report | Ausgabe 5/2005

New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family

A. Repiso, J. L. Vives Corrons, T. Vulliamy, N. Killeen, M. Layton, J. Carreras, F. Climent

01.09.2005 | Erratum | Ausgabe 5/2005


D. R. Cordero, J. Baker, D. Dorinzi, R. Toffle

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