22 Result(s)

Chapter

Disorders of Creatine Metabolism

Primary disorders of creatine metabolism are a group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT, encoded by GATM), guanidinoacetate methyltransferase (GAMT, encoded by GAMT)...

Sylvia Stöckler-Ipsiroglu, Saadet Mercimek-Andrews… in Inborn Metabolic Diseases (2022)

Chapter

Disorders of Creatine Metabolism

Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary creatine disorders (cerebral creatine deficiency syndromes types 1–3: X-linked creatine transporter (CrT/SLC6A...

Sylvia Stöckler-Ipsiroglu, Olivier Braissant… in Physician's Guide to the Diagnosis, Treatm… (2022)

Chapter

Creatine Deficiency Syndromes

Creatine deficiency syndromes (CDS) are a group of inborn errors of creatine synthesis and transport and include autosomal recessive arginine:glycine amidinotransferase (AGAT) and guanidinoacetate methyltransf...

Sylvia Stöckler-Ipsiroglu, Saadet Mercimek-Mahmutoglu… in Inborn Metabolic Diseases (2012)

Reference Work Entry In depth

Guanidinoacetate Methyltransferase Deficiency

Sylvia Stöckler-Ipsiroglu in Encyclopedia of Molecular Mechanisms of Disease (2009)

Reference Work Entry In depth

Arginine-Glycine Amidinotransferase Deficiency

Sylvia Stöckler-Ipsiroglu in Encyclopedia of Molecular Mechanisms of Disease (2009)

Reference Work Entry In depth

Creatine Transporter Deficiency

Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu in Encyclopedia of Molecular Mechanisms of Di… (2009)

Chapter

Creatine Deficiency Syndromes

Creatine deficiency syndromes (CDS) are a novel group of inborn errors of creatine synthesis and transport including autosomal recessive arginine:glycine amidino transferase (AGAT) and guanidinoacetate methylt...

Sylvia Stöckler-Ipsiroglu, Gajja S. Salomons in Inborn Metabolic Diseases (2006)

Chapter

Disorders of Creatine Metabolism

Sylvia Stöckler-Ipsiroglu, Roberta Battini… in Physician’s Guide to the Treatment and Fol… (2006)

Article

Transcultural pediatrics: Compliance and outcome of phenylketonuria patients from families with an immigration background

Living in a foreign country with a different lifestyle and a different orientation is a many-faceted challenge for immigrants. A considerable percentage (30–50%) of patients with metabolic disease come from im...

Osman S. Ipsiroglu, Marion Herle, Elisabeth Spoula… in Wiener klinische Wochenschrift (2005)

Article

Hyperhomozysteinämie

Ursachen der Hyperhomozysteinämie sind primäre Enzymdefekte der Transsulfurierung und Remethylierung, Defekte im Stoffwechsel der Kofaktoren Folat und Cobalamin, genetische Polymorphismen und exogene Faktoren....

Dr. Martina Huemer, Manuela Födinger, Julia Crone… in Monatsschrift Kinderheilkunde (2004)

Article

Early diagnosis of inherited metabolic diseases: towards improving outcome

Erik Harms, Adelbert Roscher, Cornelis Jakobs… in European Journal of Pediatrics (2003)

Article

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

Early recognition by newborn screening and oral biotin supplementation may prevent clinical and neurological deficits in profound biotinidase deficiency (residual plasma biotinidase activity <10%). In order to...

Dorothea Möslinger, Adolf Mühl, Terttu Suormala… in European Journal of Pediatrics (2003)

Chapter

Disorders of Creatine Metabolism

The creatine/creatine-phosphate system plays an important role in the storage and transmission of phosphate- bound energy. In humans, creatine is synthesised in liver and pancreas involving arginine and glycin...

Sylvia Stöckler-Ipsiroglu… in Physician’s Guide to the Laboratory Diagno… (2003)

Article

Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the β3-adrenergic receptor genes

Thermal stress has been postulated to play a major role in the aetiology of sudden infant death (SID). The human uncoupling protein-1 (UCP-1), expressed in brown adipose tissue dissipates the transmitochondri...

Ali Fatemi, Chike Item, Sylvia Stöckler-Ipsiroglu… in European Journal of Pediatrics (2002)

Article

Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype

Sylvia Stöckler-Ipsiroglu, Wolfgang Strobl… in European Journal of Pediatrics (2002)

Article

Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency

Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, shows a spectrum of severity ranging from severe neonatal hyperammonemic coma to no symptoms among adults. We report...

W. Plöchl, Engelbert Plöchl, Herwig Pokorny… in Transplant International (2001)

Article

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

Newborn screening for biotinidase deficiency (BD) provides prevention of neurological sequelae in patients with low residual enzyme activity by early treatment with oral biotin substitution. Screening 1.1 mil...

Dorothea Möslinger, Sylvia Stöckler-Ipsiroglu… in European Journal of Pediatrics (2001)