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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 1/2006

Ausgabe 1/2006

Inhaltsverzeichnis ( 52 Artikel )

01.02.2006 | Ausgabe 1/2006

Editorial

Johannes Zschocke, Georg F. Hoffmann, Garry Brown, K. Michael Gibson, Verena Peters

01.02.2006 | Ausgabe 1/2006

SSIEM column

Dr Philip Lee

01.02.2006 | Review | Ausgabe 1/2006

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview

R. Castro, I. Rivera, H. J. Blom, C. Jakobs, I. Tavares de Almeida

01.02.2006 | Metabolic Dissertation | Ausgabe 1/2006

D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect

Eduard A. Struys

01.02.2006 | Original Article | Ausgabe 1/2006

Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function

David E. L. Wilcken, Jun Wang, Ah Siew Sim, Kathryn Green, Bridget Wilcken

01.02.2006 | Original Article | Ausgabe 1/2006

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

V. Leuzzi, C. Carducci, C. Carducci, F. Chiarotti, C. Artiola, T. Giovanniello, I. Antonozzi

01.02.2006 | Original Article | Ausgabe 1/2006

Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU)

A. M. Hvas, E. Nexo, J. B. Nielsen

01.02.2006 | Original Article | Ausgabe 1/2006

Cardiomyopathy in tyrosinaemia type I is common but usually benign

N. Arora, O. Stumper, J. Wright, D. A. Kelly, P. J. McKiernan

01.02.2006 | Original Article | Ausgabe 1/2006

Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia

L. Aldámiz-Echevarría, P. Sanjurjo, J. Elorz, J. A. Prieto, C. Pérez, F. Andrade, J. Rodríguez-Soriano

01.02.2006 | Original Article | Ausgabe 1/2006

A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase

C. Mir, E. Lopez-Viñas, R. Aledo, B. Puisac, C. Rizzo, C. Dionisi-Vici, F. Deodato, J. Pié, P. Gomez-Puertas, F. G. Hegardt, N. Casals

01.02.2006 | Original Article | Ausgabe 1/2006

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

Nadia A. Oey, Jos P. N. Ruiter, Tania Attié-Bitach, Lodewijk IJlst, Ronald J. A. Wanders, Frits A. Wijburg

01.02.2006 | Original Article | Ausgabe 1/2006

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

D. M. Frazier, D. S. Millington, S. E. McCandless, D. D. Koeberl, S. D. Weavil, S. H. Chaing, J. Muenzer

01.02.2006 | Original Article | Ausgabe 1/2006

Measurement of ATP production in mitochondrial disorders

R. K. Shepherd, N. Checcarelli, A. Naini, D. C. De Vivo, S. DiMauro, C. M. Sue

01.02.2006 | Original Article | Ausgabe 1/2006

Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients

A. El-Beshlawy, L. Ragab, I. Youssry, K. Yakout, H. El-Kiki, K. Eid, I. M. Mansour, S. Abd El-Hamid, M. Yang, P. K. Mistry

01.02.2006 | Original Article | Ausgabe 1/2006

Psychological complications of patients with Gaucher disease

W. Packman, T. Wilson Crosbie, A. Riesner, C. Fairley, S. Packman

01.02.2006 | Original Article | Ausgabe 1/2006

Manifestations of Fabry disease in placental tissue

A. C. Vedder, A. Strijland, M. A. vd Bergh Weerman, S. Florquin, J. M. F. G. Aerts, C. E. M. Hollak

01.02.2006 | Original Article | Ausgabe 1/2006

The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease

R. J. Kalliokoski, I. Kantola, K. K. Kalliokoski, E. Engblom, J. Sundell, J. C. Hannukainen, T. Janatuinen, O. T. Raitakari, J. Knuuti, M. Penttinen, J. Viikari, P. Nuutila

01.02.2006 | Original Article | Ausgabe 1/2006

Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis

J.-Y. Lu, S. L. Hofmann

01.02.2006 | Original Article | Ausgabe 1/2006

Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency

L. Wang, W.-M. Yu, C. He, M. Chang, M. Shen, Z. Zhou, Z. Zhang, S. Shen, T.-T. Liu, K.-J. Hsiao

01.02.2006 | Original Article | Ausgabe 1/2006

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

C. Conter, M. O. Rolland, D. Cheillan, V. Bonnet, I. Maire, R. Froissart

01.02.2006 | Original Article | Ausgabe 1/2006

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency

Elizabeth A. Donarum, Dietrich A. Stephan, Kay Larkin, Eric J. Murphy, Maneesh Gupta, Henry Senephansiri, Robert C. Switzer, Phillip L. Pearl, O. Carter Snead, C. Jakobs, K. Michael Gibson

01.02.2006 | Original Article | Ausgabe 1/2006

Biochemical compared to molecular diagnosis in acute intermittent porphyria

U. Groß, H. Puy, K. Jacob, J. C. Deybach, J. Kremer, M. O. Doss

01.02.2006 | Original Article | Ausgabe 1/2006

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children

R. A. Chalmers, M. D. Bain, H. Michelakakis, J. Zschocke, R. A. Iles

01.02.2006 | Images in Metabolic Medicine | Ausgabe 1/2006

Acrodermatitis acidaemia secondary to ‘overtreatment’ and protein deficiency

G. F. Hoffmann, R. Happle, S. Kölker

01.02.2006 | Short Report | Ausgabe 1/2006

A study on the nature of genetic metabolic practice at a major paediatric referral centre

H. C. Glass, A. Feigenbaum, J. T. R. Clarke

01.02.2006 | Short Report | Ausgabe 1/2006

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

A. B. Burlina, A. Peduto, A. Di Palma, A. Bellizzi, D. Sperlì, A. Morrone, A. P. Burlina

01.02.2006 | Short Report | Ausgabe 1/2006

Two cases of citrullinaemia presenting with stroke

J. H. Choi, H. Kim, H. W. Yoo

01.02.2006 | Short Report | Ausgabe 1/2006

Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)

E. Robberecht, S. Maesen, A. Jonckheere, S. Van Biervliet, D. Carton

01.02.2006 | Short Report | Ausgabe 1/2006

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

S. Fecarotta, G. Parenti, P. Vajro, A. Zuppaldi, R. Della Casa, M. T. Carbone, A. Correra, G. Torre, S. Riva, C. Dionisi-Vici, F. M. Santorelli, G. Andria

01.02.2006 | Short Report | Ausgabe 1/2006

The longest-surviving patient with classical maple syrup urine disease

Carel le Roux, Elaine Murphy, Maggie Lilburn, Philip J. Lee

01.02.2006 | Short Report | Ausgabe 1/2006

Atypical phenotype in a boy with a maple syrup urine disease

T. I. Ben-Omran, S. Blaser, H. Phillips, J. Callahan, A. Feigenbaum

01.02.2006 | Short Report | Ausgabe 1/2006

Neuropsychometric outcome predictors for adults with maple syrup urine disease

C. le Roux, E. Murphy, P. Hallam, M. Lilburn, D. Orlowska, P. Lee

01.02.2006 | Short Report | Ausgabe 1/2006

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family

C. Sansaricq, S. Pardo, M. Balwani, M. Grace, K. Raymond

01.02.2006 | Short Report | Ausgabe 1/2006

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

L. Pinto, P. Zen, R. Rosa, G. Paskulin, A. Perla, L. Barea, M. R. Baumgartner, M. F. Dantas, B. Fowler, R. Giugliani, C. Vargas, M. Wajner, C. Graziadio

01.02.2006 | Short Report | Ausgabe 1/2006

Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

R. Aledo, C. Mir, R. N. Dalton, C. Turner, J. Pié, F. G. Hegardt, N. Casals, M. P. Champion

01.02.2006 | Short Report | Ausgabe 1/2006

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

M. J. H. Coenen, J. A. M. Smeitink, M. H. Farhoud, L. G. J. Nijtmans, R. Rodenburg, A. Janssen, E. P. M. van Kaauwen, F. J. M. Trijbels, L. P. van den Heuvel

01.02.2006 | Short Report | Ausgabe 1/2006

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

I. M. Anselm, F. S. Alkuraya, G. S. Salomons, C. Jakobs, A. B. Fulton, M. Mazumdar, M. Rivkin, R. Frye, T. Young Poussaint, D. Marsden

01.02.2006 | Short Report | Ausgabe 1/2006

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

P. Póo-Argüelles, A. Arias, M. A. Vilaseca, A. Ribes, R. Artuch, A. Sans-Fito, A. Moreno, C. Jakobs, G. Salomons

01.02.2006 | Short Report | Ausgabe 1/2006

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

D. H. J. Martens, T. W. Kuijpers, N. A. Maianski, J. P. Rake, G. P. A. Smit, G. Visser

01.02.2006 | Short Report | Ausgabe 1/2006

The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II

H. R. Mundy, J. E. Williams, A. J. Cousins, P. J. Lee

01.02.2006 | Short Report | Ausgabe 1/2006

Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

A. T. Anbu, J. Mercer, J. E. Wraith

01.02.2006 | Short Report | Ausgabe 1/2006

Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries

H. Ishii, T. Takahashi, M. Toyono, M. Tamura, K. Harada, M. Yoshida, Y. Nishikawa, K. Enomoto, G. Takada

01.02.2006 | Short Report | Ausgabe 1/2006

Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia

S. H. Hahn, S. J. Minnich, J. F. O’Brien

01.02.2006 | Short Report | Ausgabe 1/2006

Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia

L. J. Schlapbach, A. Sozzo, G. Ramelli, M. G. Bianchetti

01.02.2006 | Data Report | Ausgabe 1/2006

Dietary compliance in ornithine aminotransferase deficiency

Lucia Santos, White J. Fiona, John H. Walter

01.02.2006 | Letter to the Editor | Ausgabe 1/2006

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency

Konrad Oexle

01.02.2006 | JIMD – Journal of Inherited Metabolic Disease | Ausgabe 1/2006

Instruction to Authors

01.02.2006 | Ausgabe 1/2006

Advertisements

01.02.2006 | Observations and Opinions | Ausgabe 1/2006

Notes and Queries in Metab-L

Diagnostic relevance of mild methylmalonic aciduria

01.02.2006 | Book Review | Ausgabe 1/2006

Atlas of Metabolic Diseases

Verena Peters PhD

01.02.2006 | Ausgabe 1/2006

Obituaries

01.02.2006 | Ausgabe 1/2006

Finnegas

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