E Mayatepek|G F Hoffmann - JoVE Visualize

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Human Genetics|February 24, 2001

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndromeR Santer, M Kinner, M Passarge, et al.

Journal of Inherited Metabolic Disease|December 22, 1999

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type II Baric, L Wagner, P Feyh, et al.

Neuropediatrics|April 29, 1998

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolismK M Gibson, G F Hoffmann, A K Hodson, et al.

Orphanet Journal of Rare Diseases|November 25, 2021

Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSED Druschke, F Krause, G Müller, et al.

Human Genetics|July 8, 1998

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase geneK L Swango, M Demirkol, G Hüner, et al.

Infection|March 1, 1994

Influence of dietary (n-3)-polyunsaturated fatty acids on leukotriene B4 and prostaglandin E2 synthesis and course of experimental tuberculosis in guinea pigsE Mayatepek, K Paul, M Leichsenring, et al.

European Journal of Pediatrics|August 13, 1999

Clinical symptoms, biochemical studies and therapeutic approaches in a sibship with a new congenital tubulopathyJ Meyburg, E Mayatepek, U Riester, et al.

Neuropediatrics|March 8, 2000

Preterm birth in Sjögren-Larsson syndromeM A Willemsen, J J Rotteveel, P H van Domburg, et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|November 26, 2005

Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinismT Meissner, B Friedmann, J G Okun, et al.

Advances in Enzyme Regulation|January 1, 1992

Transport and in vivo elimination of cysteinyl leukotrienesD Keppler, M Müller, C Klünemann, et al.

Pageof 28

Showing results (151-160 of 280) with videos related to

Sort By:

Pageof 28

Human Genetics|February 24, 2001

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndromeR Santer, M Kinner, M Passarge, et al.

Journal of Inherited Metabolic Disease|December 22, 1999

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type II Baric, L Wagner, P Feyh, et al.

Neuropediatrics|April 29, 1998

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolismK M Gibson, G F Hoffmann, A K Hodson, et al.

Orphanet Journal of Rare Diseases|November 25, 2021

Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSED Druschke, F Krause, G Müller, et al.

Human Genetics|July 8, 1998

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase geneK L Swango, M Demirkol, G Hüner, et al.

Infection|March 1, 1994

Influence of dietary (n-3)-polyunsaturated fatty acids on leukotriene B4 and prostaglandin E2 synthesis and course of experimental tuberculosis in guinea pigsE Mayatepek, K Paul, M Leichsenring, et al.

European Journal of Pediatrics|August 13, 1999

Clinical symptoms, biochemical studies and therapeutic approaches in a sibship with a new congenital tubulopathyJ Meyburg, E Mayatepek, U Riester, et al.

Neuropediatrics|March 8, 2000

Preterm birth in Sjögren-Larsson syndromeM A Willemsen, J J Rotteveel, P H van Domburg, et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|November 26, 2005

Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinismT Meissner, B Friedmann, J G Okun, et al.

Advances in Enzyme Regulation|January 1, 1992

Transport and in vivo elimination of cysteinyl leukotrienesD Keppler, M Müller, C Klünemann, et al.

Pageof 28