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Adolf Mühl

Research Profile

Living Beings

Newborn Infant

Chemicals & Drugs

Procedures

Disorders

Physiology

Mutation

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Austria

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Publications

TOP 3
Elisa Legnini; Adolf Mühl; Joe J Orsini; Angela Dajnoki; Britt Johnson; Olaf Bodamer
Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.
Martina Huemer; D Mayr; Dorothea Möslinger; Adolf Mühl; I Schmid; Burkhard Simma; Hanno Ulmer; Olaf Bodamer
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).
Judit Wittmann; Sàndor Turi; Gyula Wittmann; Olaf Bodamer; Anne-Katrin Giese; Uta Gölnitz; Eszter Karg; Michael Klingenhäger; Elisa Legnini; Jan Lukas; Adolf Mühl; Arndt Rolfs
Newborn screening for lysosomal storage disorders in hungary.

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All Publications

2012: Elisa Legnini; Adolf Mühl; Joe J Orsini; Angela Dajnoki; Britt Johnson; Olaf Bodamer
Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.
Annals of laboratory medicine 2012;32(5):319-23.
2012: Martina Huemer; D Mayr; Dorothea Möslinger; Adolf Mühl; I Schmid; Burkhard Simma; Hanno Ulmer; Olaf Bodamer
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).
Journal of inherited metabolic disease 2012;35(5):817-21.
2012: Judit Wittmann; Sàndor Turi; Gyula Wittmann; Olaf Bodamer; Anne-Katrin Giese; Uta Gölnitz; Eszter Karg; Michael Klingenhäger; Elisa Legnini; Jan Lukas; Adolf Mühl; Arndt Rolfs
Newborn screening for lysosomal storage disorders in hungary.
JIMD reports 2012;6():117-25.
2011: Arnold J J Reuser; Otto P van Diggelen; Frans W Verheijen; Birgit Wuyts; Kate Zhang; Deeksha Bali; Dominique P Germain; Wuh-Liang Hwu; Zoltan Lukacs; Adolf Mühl; Petra Olivova; Monique Piraud; Joan Keutzer
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
Molecular genetics and metabolism 2011;104(1-2):144-8.
2011: Michael Freilinger; Chike Bellarmine Item; Ines Lanator; Adolf Mühl; Daniela Dunkler; Brian Fowler; Olaf Bodamer
Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial.
Journal of developmental and behavioral pediatrics : JDBP 2011;32(6):454-60.
2011: Elisa Legnini; Elisa Legini; Joseph J Orsini; Christina Hung; Monica Martin; Amanda Showers; MAURIZIO SCARPA; X Kate Zhang; Joan Keutzer; Adolf Mühl; Olaf Bodamer
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2011;412(3-4):343-6.
2010: Angéla Dajnoki; György Fekete; Joan Keutzer; Joseph J Orsini; Victor R De Jesus; Yin-Hsiu Chien; Wuh-Liang Hwu; Zoltan Lukacs; Adolf Mühl; X Kate Zhang; Olaf Bodamer
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2010;411(19-20):1428-31.
2007: Kristina Anna Strnadová; Margareta Holub; Adolf Mühl; Georg Heinze; Rene Ratschmann; Hermann Mascher; Sylvia Stöckler-Ipsiroglu; Franz Waldhauser; Felix Votava; Jan Lebl; Olaf Bodamer
Long-term stability of amino acids and acylcarnitines in dried blood spots.
Clinical chemistry 2007;53(4):717-22.
2007: Kristina Anna Strnadová; Felix Votava; Jan Lebl; Adolf Mühl; Chike Item; Olaf Bodamer; Toni Torresani; Ivan Bouska; Franz Waldhauser; Wolfgang Sperl
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.
European journal of pediatrics 2007;166(1):1-4.
2006: Margareta Holub; Karin Tuschl; Rene Ratschmann; Kristina Anna Strnadová; Adolf Mühl; Georg Heinze; Wolfgang Sperl; Olaf Bodamer
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2006;373(1-2):27-31.
2006: Saadet Mercimek-Mahmutoglu; Sylvia Stoeckler-Ipsiroglu; A Adami; Richard E Appleton; H Caldeira Araújo; M Duran; Regina Ensenauer; E Fernandez-Alvarez; P Garcia; C Grolik; Chike Item; Vincenzo Leuzzi; Iris Marquardt; Adolf Mühl; R A Saelke-Kellermann; Gajja S Salomons; Andreas Schulze; R Surtees; Marjo S van der Knaap; R Vasconcelos; N M Verhoeven; Laura Vilarinho; Ekkehard Wilichowski; Cornelis Jakobs
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Neurology 2006;67(3):480-4.
2006: Gerhard Trittenwein; Harald Boigner; Gehan Mostafa; Gudrun Burda; Adolf Mühl; Gabriele Amann; Arnold Pollak
Bridging to transplantation in acute liver failure in a 7-month-old infant.
Wiener klinische Wochenschrift 2006;118(9-10):298-301.
2005: Chike Item; Sylvia Stöckler-Ipsiroglu; C Willheim; Adolf Mühl; Olaf Bodamer
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Molecular genetics and metabolism 2005;86(1-2):328-34.
2005: Margareta Holub; Olaf Bodamer; Chike Item; Adolf Mühl; Arnold Pollak; Sylvia Stöckler-Ipsiroglu
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Acta paediatrica (Oslo, Norway : 1992) 2005;94(1):48-52.
2005: Karin Tuschl; Olaf Bodamer; Wolfgang Erwa; Adolf Mühl
Rapid analysis of total plasma homocysteine by tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2005;351(1-2):139-41.
2004: Chike Item; Saadet Mercimek-Mahmutoglu; Roberta Battini; C Edlinger-Horvat; Carmen Stromberger; Olaf Bodamer; Adolf Mühl; M A Vilaseca; H Korall; Sylvia Stöckler-Ipsiroglu
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Human mutation 2004;23(5):524.
2003: Dorothea Möslinger; Adolf Mühl; Terttu Suormala; Regula Baumgartner; Sylvia Stöckler-Ipsiroglu
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.
European journal of pediatrics 2003;162 Suppl 1():S46-9.
2002: Chike Item; Carmen Stromberger; Adolf Mühl; Claudia Edlinger; Olaf Bodamer; Andreas Schulze; Robert Surtees; Vincenzo Leuzzi; Gajja S Salomons; Cornelis Jakobs; Sylvia Stöckler-Ipsiroglu
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
Clinical chemistry 2002;48(5):767-9.
2002: Chike Item; Brian P Hagerty; Adolf Mühl; Susanne Greber-Platzer; Sylvia Stöckler-Ipsiroglu; Wolfgang Strobl
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
Pediatric research 2002;51(4):511-6.
2002: Dóra Török; Adolf Mühl; Felix Votava; Georg Heinze; János Sólyom; Julia Crone; Sylvia Stöckler-Ipsiroglu; Franz Waldhauser
Stability of 17alpha-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage.
Clinical chemistry 2002;48(2):370-2.
2001: Chike Item; Sylvia Stöckler-Ipsiroglu; Carmen Stromberger; Adolf Mühl; Maria Grazia Alessandrì; Maria Cristina Bianchi; Michela Tosetti; Francesco Fornai; Giovanni Cioni
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
American journal of human genetics 2001;69(5):1127-33.
2001: Osman S Ipsiroglu; Carmen Stromberger; J Ilas; H Höger; Adolf Mühl; Sylvia Stöckler-Ipsiroglu
Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species.
Life sciences 2001;69(15):1805-15.
2001: M Marx; Adolf Mühl; Harald Hoeger; B Rolinski; H Frisch; Kurt Herkner; Gert Lubec; Barbara Lubec
Brain fatty acids in perinatal asphyxia.
Life sciences 2001;68(24):2657-64.
2001: Dorothea Möslinger; Sylvia Stöckler-Ipsiroglu; S Scheibenreiter; M Tiefenthaler; Adolf Mühl; R Seidl; Wolfgang Strobl; Barbara Plecko; Terttu Suormala; E Regula Baumgartner
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
European journal of pediatrics 2001;160(5):277-82.
2001: Adolf Mühl; Dorothea Möslinger; Chike Item; Sylvia Stöckler-Ipsiroglu
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
European journal of human genetics : EJHG 2001;9(4):237-43.
2000: Klaus Mayerhofer; Lukas Hefler; Harald Zeisler; Clemens Tempfer; Klaus Bodner; Sylvia Stöckler-Ipsiroglu; Adolf Mühl; Alexandra Kaider; Christian Schatten; Sepp Leodolter; Peter Husslein; Christian Kainz
Serum homocyst(e)ine levels in women with preeclampsia.
Wiener klinische Wochenschrift 2000;112(6):271-5.
2000: J Ilas; Adolf Mühl; Sylvia Stöckler-Ipsiroglu
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
Clinica chimica acta; international journal of clinical chemistry 2000;290(2):179-88.
1997: Stylianos Kapiotis; Marcela Hermann; I Held; Adolf Mühl; Bernhard M K Gmeiner
Tyrosine: an inhibitor of LDL oxidation and endothelial cell cytotoxicity initiated by superoxide/nitric oxide radicals.
FEBS letters 1997;409(2):223-6.