R
Rene Ratschmann
Researcher at Medical University of Vienna
Publications - 9
Citations - 407
Rene Ratschmann is an academic researcher from Medical University of Vienna. The author has contributed to research in topics: Guanidinoacetate N-methyltransferase & Substrate reduction therapy. The author has an hindex of 7, co-authored 9 publications receiving 366 citations. Previous affiliations of Rene Ratschmann include University of Vienna & Boston Children's Hospital.
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Journal ArticleDOI
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry.
Margareta Holub,Karin Tuschl,Rene Ratschmann,Kristina Anna Strnadová,Adolf Mühl,Georg Heinze,Wolfgang Sperl,Olaf Bodamer +7 more
TL;DR: Both hematocrit and position of the disk within the dried blood spot have a significant and sometimes additive effect on levels of AA, AC and GAA in dried blood spots.
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Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots
Kristina Anna Strnadová,Margareta Holub,Adolf Mühl,Georg Heinze,Rene Ratschmann,Hermann Mascher,Sylvia Stockler-Ipsiroglu,F. Waldhauser,Felix Votava,Jan Lebl,Olaf Bodamer +10 more
TL;DR: Estimation of the annual decrease of metabolites may allow for the retrospective diagnosis of inborn errors of metabolism in filter cards that have been stored for long periods of time.
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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,Joseph L. Herman,Rene Ratschmann,Chike B. Item,Berthold Streubel,Kurt R. Herkner,David C. Kasper +10 more
TL;DR: Turboflow online sample cleanup and the use of an additional analytical column enabled the implementation of lysosomal storage disorder testing in a nationwide screening program while keeping the total analysis time to <2 min per sample.
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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,Vassiliki Konstantopoulou,Chike B. Item,Arnold Pollak,Kurt R. Herkner +8 more
TL;DR: The National Austrian Newborn Screening Program for inherited metabolic and endocrinologic disorders was introduced in 1966 and continuously evolved by expanding the screening panel from phenylketonuria and galactosefizienz to congenital hypothyreose, biotinidopathy and cystische Fibrose.
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Transcobalamin II deficiency at birth.
Rene Ratschmann,Milen Minkov,Ana Kis,Christina Hung,Tony Rupar,Adolf Mühl,Brian Fowler,Ebba Nexo,Olaf Bodamer,Olaf Bodamer +9 more
TL;DR: Interestingly, urinary methylmalonic acid excretion was increased significantly during the first days of life suggesting that functional cobalamin deficiency is present also during fetal life, although not giving rise to clinical symptoms until well after birth.