Publications by authors named "Chike B Item"

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Circulating microRNAs 34a, 122, and 192 are linked to obesity-associated inflammation and metabolic disease in pediatric patients.
Julia Lischka, Andrea Schanzer, Azadeh Hojreh, Ahmed Ba-Ssalamah, Charlotte de Gier, Chike Bellarmine Item

Int J Obes (Lond)· August 2021

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A branched-chain amino acid-based metabolic score can predict liver fat in children and adolescents with severe obesity.
Julia Lischka, Andrea Schanzer, Azadeh Hojreh, Ahmed Ba Ssalamah, Chike Bellarmine Item

Pediatr Obes· April 2021

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DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
Chike Bellarmine Item, Somayeh Farhadi, Andrea Schanzer, Susanne Greber-Platzer

Clin Biochem· August 2017

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Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria.
Chike Bellarmine Item, Sharmane Escueta, Andrea Schanzer, Somayeh Farhadi, Thomas Metz

Clin Biochem· February 2017

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Aberrant DNA methylation of calcitonin receptor in Fabry patients treated with enzyme replacement therapy.
Anna Hübner, Thomas Metz, Andrea Schanzer, Susanne Greber-Platzer, Chike Bellarmine Item

Mol Genet Metab Rep· December 2015

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DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker.
Kristina A Tendl, Stefan M F Schulz, Thomas P Mechtler, Adele Bohn, Thomas Metz, Chike B Item

Epigenetics· December 2013

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Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Eva Morava, Julia Vodopiutz, Dirk J Lefeber, Andreas R Janecke, Wolfgang M Schmidt, Chike B Item

Pediatrics· October 2012

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P53 mutation is a rare event in Merkel cell carcinoma of the head and neck.
Claudia Lill, Sven Schneider, Chike B Item, Robert Loewe, Roland Houben

Eur Arch Otorhinolaryngol· November 2011

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Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial.
Michael Freilinger, Daniela Dunkler, Ines Lanator, Chike Bellarmine Item, Adolf Mühl

J Dev Behav Pediatr· November 2011

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Simplified newborn screening protocol for lysosomal storage disorders.
Thomas F Metz, Thomas P Mechtler, Joseph J Orsini, Monica Martin, Bori Shushan, Chike B Item

Clin Chem· September 2011

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Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility.
Furhan Iqbal, Chike Bellarmine Item, Rene Ratschmann, Muhammad Ali, Eugen Plas

Pak J Pharm Sci· January 2011

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The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals.
David C Kasper, Rene Ratschmann, Thomas F Metz, Thomas P Mechtler, Dorothea Möslinger, Chike B Item

Wien Klin Wochenschr· November 2010

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The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Furhan Iqbal, Chike B Item, Maria A Vilaseca, Anil Jalan, Adolf Mühl

Mol Genet Metab· May 2010

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Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
David C Kasper, Furhan Iqbal, Lenka Dvorakova, Jiri Zeman, Martin Magner, Chike B Item

Clin Chim Acta· March 2010

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Transformation of pleomorphic adenoma to carcinoma ex pleomorphic adenoma of the parotid gland is independent of p53 mutations.
Claudia Gedlicka, Chike B Item, Markus Wögerbauer, Helga Martinek, Gregor Heiduschka

J Surg Oncol· February 2010

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Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Chike Bellarmine Item, Ivana Mihalek, Oliver Lichtarge, Anil Jalan, Julia Vodopiutz

Mol Genet Metab· August 2007

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

J Craniomaxillofac Surg· October 2005

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Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
Chike Bellarmine Item, Dritan Turhani, Dietmar Thurnher, Kaan Yerit, Klaus Sinko

Int J Mol Med· February 2005

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Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
Roberta Battini, Vincenzo Leuzzi, Carla Carducci, Michela Tosetti, Maria C Bianchi, Chike B Item

Mol Genet Metab· December 2002

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Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
Chike B Item, Carmen Stromberger, Adolf Mühl, Claudia Edlinger, Olaf A Bodamer

Clin Chem· May 2002

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