GAMT deficiency : Features, treatment, and outcome in an inborn error of creatine synthesis von MERCIMEK-MAHMUTOGLU, S, STOECKLER-IPSIROGLU, S, ITEM, C. B, LEUZZI, V, MARQUARDT, I, MÜHL, A, SAELKE-KELLERMANN, R. A, SALOMONS, G. S, SCHULZE, A, SURTEES, R, VAN DER KNAAP, M. S, VASCONCELOS, R, ADAMI, A, VERHOEVEN, N. M, VILARINHO, L, WILICHOWSKI, E, JAKOBS, C, APPLETON, R, CALDEIRA ARAUJO, H, DURAN, M, ENSENAUER, R, FERNANDEZ-ALVAREZ, E, GARCIA, P, GROLIK, C

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Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia von Item, C.B., Schanzer, A., Metz, T., Greber-Platzer, S., Lischka, J.

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LOW CREATININE : THE DIAGNOSTIC CLUE FOR A TREATABLE NEUROLOGIC DISORDER von BODAMER, O. A, IQBAL, F, MÜHL, A, HUNG, C, PRAYER, D, RATSCHMANN, R, ITEM, B. C

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Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans von Item, Chike Bellarmine, Stöckler-Ipsiroglu, Sylvia, Stromberger, Carmen, Mühl, Adolf, Alessandrì, Maria Grazia, Bianchi, Maria Cristina, Tosetti, Michela, Fornai, Francesco, Cioni, Giovanni

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Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation von Mühl, A, Möslinger, D, Item, C B, Stöckler-Ipsiroglu, S

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Characterization of seven novel mutations in seven patients with GAMT deficiency von Item, C.B., Mercimek-Mahmutoglu, S., Battini, R., Edlinger-Horvat, C., Stromberger, C., Bodamer, O., Mühl, A., Vilaseca, M.A., Korall, H., Stöckler-Ipsiroglu, S.

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Severe Speech Delay as the Presenting Symptom of Guanidinoacetate Methyltransferase Deficiency von Vodopiutz, J., Item, C.B., Häusler, M., Korall, H., Bodamer, O.A.

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Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency von Item, C.B., Stöckler-Ipsiroglu, S., Willheim, C., Mühl, A., Bodamer, O.A.

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Gene symbol: PVRL1. Disease: non-syndromic cleft lip and palate (CL+P) von Item, B C, Turhani, Dritan, Thurnher, Dietmer, Sinko, Klaus, Stoeckler-Ipsiroglu, Sylvia, Kapral, David, Yerit, Kaan, Ewers, Rolf, Watzinger, Franz

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Gene symbol: IRF6. Disease: Van der Woude syndrome von Item, C B, Turhani, D, Thurnher, D, Sinko, K, Yerit, K, Galev, K, Wittwer, G, Lanre Adeyemo, W, Klemens, F, Ewers, R, Watzinger, F

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Circulating microRNAs Crosslink Inflammation and Metabolic Disease in Pediatric Obesity von Lischka, J, Schanzer, A, Hojreh, A, Ba Ssalamah, A, de Gier, C, Valent, I, Item, CB, Greber-Platzer, S, Zeyda, M

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Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree von Battini, Roberta, Leuzzi, Vincenzo, Carducci, Carla, Tosetti, Michela, Bianchi, Maria C, Item, Chike B, Stöckler-Ipsiroglu, Sylvia, Cioni, Giovanni

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Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate von Turhani, Dritan, Item, Chike B., Watzinger, Elisabeth, Sinko, Klaus, Watzinger, Franz, Lauer, Guenter, Ewers, Rolf

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Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency von ITEM, Ckike B, STROMBERGER, Carmen, STÖCKLER-IPSIROGLU, Sylvia, MÜHL, Adolf, EDLINGER, Claudia, BODAMER, Olaf A, SCHULZE, Andreas, SURTEES, Robert, LEUZZI, Vincenzo, SALOMONS, Gajja S, JAKOBS, Cornelis

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Simplified Newborn Screening Protocol for Lysosomal Storage Disorders von METZ, Thomas F, MECHTLER, Thomas P, KASPER, David C, ORSINI, Joseph J, MARTIN, Monica, SHUSHAN, Bori, HERMAN, Joseph L, RATSCHMANN, Rene, ITEM, Chike B, STREUBEL, Berthold, HERKNER, Kurt R

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DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker von Tendl, Kristina A, Schulz, Stefan M F, Mechtler, Thomas P, Bohn, Adele, Metz, Thomas, Greber-Platzer, Susanne, Kasper, David C, Herkner, Kurt R, Item, Chike B

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The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals von Kasper, David C., Ratschmann, Rene, Metz, Thomas F., Mechtler, Thomas P., Möslinger, Dorothea, Konstantopoulou, Vassiliki, Item, Chike B., Pollak, Arnold, Herkner, Kurt R.

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Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family von Seidel, M G, Rami, B, Item, C, Schober, E, Zeitlhofer, P, Huber, W D, Heitger, A, Bodamer, O A, Haas, O A

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Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of α- l-iduronidase mutations causing mucopolysaccharidosis type I von Kasper, David C., Iqbal, Furhan, Dvorakova, Lenka, Zeman, Jiri, Magner, Martin, Bodamer, Olaf, Pollak, Arnold, Herkner, Kurt R., Item, Chike B.

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Mutations at the galactose-1-P-uridyltransferase gene in infants with a positive galactosemia newborn screening test von ITEM, Chike, HAGERTY, Brian P, MUHL, Adolf, GREBER-PLATZER, Susanne, STÖCKLER-IPSIROGLU, Sylvia, STROBL, Wolfgang

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