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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 6/2007

Ausgabe 6/2007

Inhaltsverzeichnis ( 29 Artikel )

01.11.2007 | Editorial | Ausgabe 6/2007

No justification for very high-dose enzyme therapy for patients with type III Gaucher disease

Ari Zimran, Deborah Elstein

01.11.2007 | Review | Ausgabe 6/2007

Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

F. Sedel, I. Gourfinkel-An, O. Lyon-Caen, M. Baulac, J.-M. Saudubray, V. Navarro

01.11.2007 | Review | Ausgabe 6/2007

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

F. Sedel, B. Fontaine, J. M. Saudubray, O. Lyon-Caen

01.11.2007 | Review | Ausgabe 6/2007

Neurological implications of urea cycle disorders

A. L. Gropman, M. Summar, J. V. Leonard

01.11.2007 | Review | Ausgabe 6/2007

Nutritional management of patients with urea cycle disorders

R. H. Singh

01.11.2007 | Rapid Communication | Ausgabe 6/2007

Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome

E. J. Hager, H. M. Tse, J. D. Piganelli, M. Gupta, M. Baetscher, T. E. Tse, A. S. Pappu, R. D. Steiner, G. F. Hoffmann, K. M. Gibson

01.11.2007 | Original Article | Ausgabe 6/2007

Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker

P. Paesold-Burda, M. R. Baumgartner, R. Santer, N. U. Bosshard, B. Steinmann

01.11.2007 | Original Article | Ausgabe 6/2007

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

N. Flaschker, O. Feyen, S. Fend, E. Simon, P. Schadewaldt, U. Wendel

01.11.2007 | Original Article | Ausgabe 6/2007

Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria

N. Longo, S. K. Li, G. Yan, R. P. Kochambilli, K. Papangkorn, D. Berglund, A.-H. Ghanem, C. L. Ashurst, S. L. Ernst, M. Pasquali, W. I. Higuchi

01.11.2007 | Original Article | Ausgabe 6/2007 Open Access

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia

N. C. den Hollander, D. J. Mulder, R. Graaff, S. R. Thorpe, J. W. Baynes, G. P. A. Smit, A. J. Smit

01.11.2007 | Original Article | Ausgabe 6/2007

The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)

A. R. Garcia, J. Pan, J. C. Lamsa, J. Muenzer

01.11.2007 | Original Article | Ausgabe 6/2007

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

E. H. Davies, A. Erikson, T. Collin-Histed, E. Mengel, A. Tylki-Szymanska, A. Vellodi

01.11.2007 | Original Article | Ausgabe 6/2007

Depression in adults with Fabry disease: A common and under-diagnosed problem

A. L. Cole, P. J. Lee, D. A. Hughes, P. B. Deegan, S. Waldek, R. H. Lachmann

01.11.2007 | Original Article | Ausgabe 6/2007

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis

M. L. Katz, D. N. Sanders, B. P. Mooney, Gary S. Johnson

01.11.2007 | Original Article | Ausgabe 6/2007

Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic

I. Blahakova, E. Makaturova, L. Kotrbova, M. Soukupova, J. Lastuvkova, L. Kozak

01.11.2007 | Original Article | Ausgabe 6/2007

Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia

E. Meriño-Ibarra, J. Puzo, E. Jarauta, A. Cenarro, D. Recalde, Á. L. García-Otín, E. Ros, E. Martorell, X. Pintó, M. Franco, D. Zambón, Á. Brea, M. Pocoví, F. Civeira

01.11.2007 | Short Report | Ausgabe 6/2007

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme

A. E. ten Hoedt, A. A. van Kempen, A. Boelen, M. Duran, E. A. Kemper-Proper, M. J. W. Oey-Spauwen, F. A. Wijburg, A. M. Bosch

01.11.2007 | Short Report | Ausgabe 6/2007

Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency

E. López-Laso, J. García-Villoria, E. Martín, P. Duque, A. Cano, A. Ribes

01.11.2007 | Short Report | Ausgabe 6/2007

Osteoma of the calvaria in l-2-hydroxyglutaric aciduria

A. Larnaout, R. Amouri, S. Neji, M. Zouari, N. Kaabachi, F. Hentati

01.11.2007 | Short Report | Ausgabe 6/2007

Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy

C. M. Mak, T.-S. Siu, C.-W. Lam, G. C.-F. Chan, G. W.-K. Poon, K.-Y. Wong, L. C.-K. Low, N. L. Tang, S. K. Li, K.-Y. Lau, N.-S. Kwong, S. Tam

01.11.2007 | Short Report | Ausgabe 6/2007

Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia

B. Panis, M. J. P. G. van Kroonenburgh, M. E. Rubio-Gozalbo

01.11.2007 | Short Report | Ausgabe 6/2007

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases

R. Buccoliero, S. Palmeri, G. Ciarleglio, A. Collodoro, M. M. De Santi, A. Federico

01.11.2007 | Short Report | Ausgabe 6/2007

Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe

J. Cox-Brinkman, R. G. M. Timmermans, F. A. Wijburg, W. E. Donker, A. T. van de Ploeg, J. M. F. G. Aerts, C. E. M. Hollak

01.11.2007 | Short Report | Ausgabe 6/2007

Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels

M. Langeveld, E. Endert, W. M. Wiersinga, J. M. F. G. Aerts, C. E. M. Hollak

01.11.2007 | Short Report | Ausgabe 6/2007

Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child

M. Fotoulaki, E. H. Schuchman, C. M. Simonaro, P. Augoustides-Savvopoulou, H. Michelakakis, P. Panagopoulou, G. Varlamis, S. Nousia-Arvanitakis

01.11.2007 | Short Report | Ausgabe 6/2007

Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

C. F. Morel, A. Gassas, J. Doyle, J. T. R. Clarke

01.11.2007 | Short Report | Ausgabe 6/2007

Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males

A. C. Vedder, V. E. A. Gerdes, B. J. H. M. Poorthuis, M. Helmond, M. D. Trip, J. M. F. G. Aerts, C. E. M. Hollak

01.11.2007 | Online Report | Ausgabe 6/2007

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

E. Barkaoui, W. Cherif, N. Tebib, C. Charfeddine, F. Ben Rhouma, H. Azzouz, A. Ben Chehida, K. Monastiri, J. Chemli, F. Amri, H. Ben Turkia, M. S. Abdelmoula, N. Kaabachi, S. Abdelhak, M. F. Ben Dridi

01.11.2007 | Online Report | Ausgabe 6/2007

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia

R. Vongsuvanh, A. J. Hooper, J. C. Coakley, J. S. Macdessi, E. V. O’Loughlin, J. R. Burnett, K. J. Gaskin

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