Search Results - "Mayatepek, E"

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature by Schlune, A, vom Dahl, S, Häussinger, D, Ensenauer, R, Mayatepek, E

“…Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in the urea cycle. In contrast…”
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Resilience strengthening in youth with a chronic medical condition: a randomized controlled feasibility trial of a combined app and coaching program by Bischops, Anne Christine, Sieper, L., Dukart, J., Schaal, N. K., Reinauer, C., Oommen, P. T., Tomoiaga, C., David, O., Mayatepek, E., Meissner, T.

“…Youth with a chronic medical condition (CMC) are often affected by comorbid mental disorders. Resilience-strengthening interventions can protect youth’s mental…”
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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop by Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U

“…Published data on treatment of fatty acid oxidation defects are scarce. Treatment recommendations have been developed on the basis of observations in 75…”
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Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed by Al Sawaf, S., Mayatepek, E., Hoffmann, B.

“…Summary Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase…”
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Multiple cytokines for the detection of Mycobacterium tuberculosis infection in children with tuberculosis by Nausch, N., Lundtoft, C., Schulz, G., Henckel, H., Mayatepek, E., Fleischer, B., Marx, F. M., Jacobsen, M.

“…SETTING: Interferon-gamma (IFN-γ) release assays (IGRAs) play an important role in the diagnosis of Mycobacterium tuberculosis infection. However, in children…”
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Evaluation of lipoprotein‐associated phospholipase A2 as a marker for renal microvasculopathy in adolescents with Type 1 diabetes by Seyfarth, J., Herebian, D., Reinauer, C., Baechle, C., Roden, M., Holl, R. W., Reinehr, T., Mayatepek, E., Meissner, T., Rosenbauer, J.

“…Aim To assess the relevance of lipoprotein‐associated phospholipase A2 activity as a diagnostic and prognostic marker for renal microvascular diseases. Methods…”
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Need for Better Diabetes Treatment: The Therapeutic Potential of NMDA Receptor Antagonists by Welters, A, Lammert, E, Mayatepek, E, Meissner, T

“…Diabetes mellitus is the most common metabolic disorder in children and adolescents. Optimal control of blood glucose concentration is essential to prevent…”
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Intrahepatic cholestasis of pregnancy (ICP): case report and review of the literature by Keitel, V, Dröge, C, Stepanow, S, Fehm, T, Mayatepek, E, Köhrer, K, Häussinger, D

“…Intrahepatic cholestasis of pregnancy (ICP) represents the most common pregnancy-related liver disease in women. Women frequently present in the third…”
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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency by SCHULZE, A, HOFFMANN, G. F, BACHERT, P, KIRSCH, S, SALOMONS, G. S, VERHOEVEN, N. M, MAYATEPEK, E

“…Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased…”
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Pseudotumor cerebri in childhood and adolescence -- results of a Germany-wide ESPED-survey by Tibussek, D, Distelmaier, F, von Kries, R, Mayatepek, E

“…No valid epidemiological data on Pseudotumor cerebri (PTC) in childhood and adolescence are available. This national survey aims to raise awareness of the PTC…”
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Neuromyelitis optica and pregnancy during therapeutic B cell depletion: infant exposure to anti-AQP4 antibody and prevention of rebound relapses with low-dose rituximab postpartum by Ringelstein, M, Harmel, J, Distelmaier, F, Ingwersen, J, Menge, T, Hellwig, K, Kieseier, B, Mayatepek, E, Hartung, H-P, Kuempfel, T, Aktas, O

“…Neuromyelitis optica (NMO) predominantly affects women, some in childbearing age, and requires early therapeutic intervention to prevent disabling relapses. We…”
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TGR5 Signalling is Essential for Bile Acid-Dependent Cholangiocyte Proliferation in Vivo by Reich, M.K, Deutschmann, K, Klindt, C, Herebian, D, Mayatepek, E, Häussinger, D, Keitel, V

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LCA Induced Liver Damage is More Pronounced in TGR5 Knockout Mice by Klindt, C, Deutschmann, K, Reich, M, Herebian, D, Mayatepek, E, Häussinger, D, Keitel, V

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop by Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U

“…At present, long-chain fatty acid oxidation (FAO) defects are diagnosed in a number of countries by newborn screening using tandem mass spectrometry. In the…”
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Fatal non-accidental alpha-lipoic acid intoxication in an adolescent girl by Hadzik, B, Grass, H, Mayatepek, E, Daldrup, T, Hoehn, T

“…The aim of our report is to increase awareness that the antioxidant alpha-lipoic acid, which is marketed primarily as weight loss and energy supplement, has…”
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Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report by Babor, F, Hadzik, B, Stannigel, H, Mayatepek, E, Hoehn, T

“…Neonatal hemochromatosis (NH) is a rare and severe liver disease of mainly intra-uterine onset, characterized by neonatal liver failure, hepatic and…”
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Childhood-onset Leigh syndrome transforming into an episodic weakness phenotype with axonal neuropathy caused by MT-ATP6 mutations by Wagner, A, Alhaddad, B, Ahting, U, Prokisch, H, Rodenburg, R, Mayatepek, E, Haack, T, Distelmaier, F

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Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinoma by Marquard, J., Welters, A., Buschmann, T., Barthlen, W., Vogelgesang, S., Klee, D., Krausch, M., Raffel, A., Otter, S., Piemonti, L., Mayatepek, E., Otonkoski, T., Lammert, E., Meissner, T.

“…Aims/hypothesis Exercise-induced hyperinsulinism (EIHI) is a hypoglycaemic disorder characterised by inappropriate insulin secretion following anaerobic…”
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Evaluation of Acoustic Radiation Force Impulse Imaging (ARFI) for the Determination of Liver Stiffness Using Transient Elastography as a Reference in Children by Sagir, A., Ney, D., Oh, J., Pandey, S., Kircheis, G., Mayatepek, E., Häussinger, D.

“…Purpose: Transient elastography (Fibroscan © ; (FS)) and acoustic radiation force impulse imaging (ARFI) represent noninvasive, user-friendly and quick methods…”
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5-Oxoprolinuria in patients with and without defects in the γ-glutamyl cycle by MAYATEPEK, E

“…In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase deficiency (GSD) and 5-oxoprolinase…”
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