Works matching AU Bodamer, O.

Results: 32

H2-breath tests--importance of adequate storage of breath samples.

Published in:

1997

By:

Bodamer, O. A. F.;
Leonard, J. V.;
Lane, R. E.;
Bodamer, O A

Publication type:

commentary

Danon disease: Case report and detection of new mutation.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 115, doi. 10.1007/s10545-009-1097-9

By:

Regelsberger, G.;
Höftberger, R.;
Pickl, W.;
Zlabinger, G.;
Körmöczi, U.;
Salzer-Muhar, U.;
Luckner, D.;
Bodamer, O.;
Mayr, J.;
Muss, W.;
Budka, H.;
Bernheimer, H.

Publication type:

Article

Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Published in:

2009

By:

Hörster, F.;
Garbade, S.;
Zwickler, T.;
Aydin, H.;
Bodamer, O.;
Burlina, A.;
Das, A.;
Klerk, J.;
Dionisi-Vici, C.;
Geb, S.;
Gökcay, G.;
Guffon, N.;
Maier, E.;
Morava, E.;
Walter, J.;
Schwahn, B.;
Wijburg, F.;
Lindner, M.;
Grünewald, S.;
Baumgartner, M.

Publication type:

Correction Notice

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 630, doi. 10.1007/s10545-009-1189-6

By:

Hörster, F.;
Garbade, S.;
Zwickler, T.;
Aydin, H.;
Bodamer, O.;
Burlina, A.;
Das, A.;
Klerk, J.;
Dionisi-Vici, C.;
Geb, S.;
Gökcay, G.;
Guffon, N.;
Maier, E.;
Morava, E.;
Walter, J.;
Schwahn, B.;
Wijburg, F.;
Lindner, M.;
Grünewald, S.;
Baumgartner, M.

Publication type:

Article

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 361, doi. 10.1007/s10545-008-0804-2

By:

Zwickler, T.;
Lindner, M.;
Aydin, H.;
Baumgartner, M.;
Bodamer, O.;
Burlina, A.;
Das, A.;
deKlerk, J.;
Gökcay, G.;
Grünewald, S.;
Guffon, N.;
Maier, E.;
Morava, E.;
Geb, S.;
Schwahn, B.;
Walter, J.;
Wendel, U.;
Wijburg, F.;
Müller, E.;
Kölker, S.

Publication type:

Article

Congenital disorders of glycosylation—a challenging group of IEMs.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 267, doi. 10.1007/s10545-008-0849-2

By:

Vodopiutz, J.;
Bodamer, O.

Publication type:

Article

Expanded newborn screening in Europe 2007.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 439, doi. 10.1007/s10545-007-0666-z

By:

Bodamer, O.;
Hoffmann, G.;
Lindner, M.

Publication type:

Article

Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 877, doi. 10.1023/B:BOLI.0000045772.09776.e0

By:

Bodamer, O.;
Gruber, S.;
StÖckler-Ipsiroglu, S.

Publication type:

Article

Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 761, doi. 10.1023/B:BOLI.0000009963.88420.c2

By:

Orendáč, M.;
Zeman, J.;
Stabler, S.;
Allen, R.;
Kraus, J.;
Bodamer, O.;
Stöckler-Ipsiroglu, S.;
Kvasnička, J.;
Kožich, V.

Publication type:

Article

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 2/3, p. 299, doi. 10.1023/A:1024453704800

By:

Stromberger, C.;
Bodamer, O.;
Stöckler-Ipsiroglu, S.

Publication type:

Article

Protein, glucose and energy metabolism in Gaucher disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 86, doi. 10.1023/A:1005611216218

By:

Bodamer, O.;
Vellodi, A.

Publication type:

Article

Psychiatric symptoms of inherited metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 2, doi. 10.1023/A:1005685010766

By:

Estrov, Y.;
Scaglia, F.;
Bodamer, O.

Publication type:

Article

Increased resting energy expenditure in glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 80, doi. 10.1023/A:1005375717518

By:

Feillet, F.;
Bodamer, O.;
Leonard, J.

Publication type:

Article

Leucine and glucose kinetics in glycogen storage disease type IIIa.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 847, doi. 10.1023/A:1005304809354

By:

Bodamer, O.;
Mayatepek, E.;
Leonard, J.

Publication type:

Article

Expanding the clinical spectrum of biallelic ZNF335 variants.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 246, doi. 10.1111/cge.13260

By:

Stouffs, K.;
Stergachis, A. B.;
Vanderhasselt, T.;
Dica, A.;
Janssens, S.;
Vandervore, L.;
Gheldof, A.;
Bodamer, O.;
Keymolen, K.;
Seneca, S.;
Liebaers, I.;
Jayaraman, D.;
Hill, H. E.;
Partlow, J. N.;
Walsh, C. A.;
Jansen, A. C.

Publication type:

Article

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 359, doi. 10.1111/cge.12608

By:

Koenighofer, M.;
Hung, C. Y.;
McCauley, J. L.;
Dallman, J.;
Back, E. J.;
Mihalek, I.;
Gripp, K. W.;
Sol‐Church, K.;
Rusconi, P.;
Zhang, Z.;
Shi, G‐X.;
Andres, D. A.;
Bodamer, O. A.

Publication type:

Article

Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis.

Published in:

2001

By:

Bodamer, OAF;
Bravermann, RM;
Craigen, WJ;
Bodamer, O A;
Bravermann, R M;
Craigen, W J

Publication type:

journal article

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with Fabry disease later-onset GLA IVS 4+919G>A.

Published in:

Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 43

By:

Chien, Y. H.;
Bodamer, O. A;
Chiang, S. C.

Publication type:

Article

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.

Published in:

2012

By:

Muenzer J;
Bodamer O;
Burton B;
Clarke L;
Frenking GS;
Giugliani R;
Jones S;
Rojas MV;
Scarpa M;
Beck M;
Harmatz P;
Muenzer, Joseph;
Bodamer, Olaf;
Burton, Barbara;
Clarke, Lorne;
Frenking, Gudrun Schulze;
Giugliani, Roberto;
Jones, Simon;
Rojas, Maria Verónica Muñoz;
Scarpa, Maurizio

Publication type:

journal article

Measurement of glucose turnover - implications for the study of inborn errors of metabolism.

Published in:

European Journal of Pediatrics, 1997, v. 156, p. S35, doi. 10.1007/PL00014269

By:

Halliday, D.;
Bodamer, O. A. F.

Publication type:

Article

Assessment of energy expenditure in metabolic disorders.

Published in:

European Journal of Pediatrics, 1997, v. 156, p. S24, doi. 10.1007/PL00014266

By:

Bodamer, O. A. F.;
Hoffmann, G. F.;
Visser, G. H.;
Janecke, A.;
Linderkamp, O.;
Leonard, J. V.;
Fasoli, L.;
Rating, D.

Publication type:

Article

Protein turnover in critically ill children.

Published in:

European Journal of Pediatrics, 1997, v. 156, p. S59, doi. 10.1007/PL00014273

By:

Bodamer, O. A. F.;
Leonard, J. V.;
Tasker, R. C.;
Hoffmann, G. F.;
Halliday, D.

Publication type:

Article

Dietary treatment in late-onset acid maltase deficiency.

Published in:

European Journal of Pediatrics, 1997, v. 156, p. S39, doi. 10.1007/PL00014270

By:

Bodamer, O. A. F.;
Leonard, J. V.;
Halliday, D.

Publication type:

Article

Stable isotope studies in inborn errors of metabolism - implications and conclusions.

Published in:

European Journal of Pediatrics, 1997, v. 156, p. S88, doi. 10.1007/PL00014280

By:

Leonard, J. V.;
Bodamer, O. A. F.

Publication type:

Article

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Published in:

2005

By:

Holub, M.;
Bodamer, O. A.;
Item, C.;
Mühl, A.;
Pollak, A.;
Stöckler-Ipsiroglu, S.;
Mühl, A;
Stöckler-Ipsiroglu, S

Publication type:

journal article

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 461, doi. 10.1007/s10545-013-9664-5

By:

Trakadis, Y.;
Alfares, A.;
Bodamer, O.;
Buyukavci, M.;
Christodoulou, J.;
Connor, P.;
Glamuzina, E.;
Gonzalez-Fernandez, F.;
Bibi, H.;
Echenne, B.;
Manoli, I.;
Mitchell, J.;
Nordwall, M.;
Prasad, C.;
Scaglia, F.;
Schiff, M.;
Schrewe, B.;
Touati, G.;
Tchan, M.;
Varet, B.

Publication type:

Article

Propionic acidemia: neonatal versus selective metabolic screening.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 41, doi. 10.1007/s10545-011-9419-0

By:

Grünert, S. C.;
Müllerleile, S.;
de Silva, L.;
Barth, M.;
Walter, M.;
Walter, K.;
Meissner, T.;
Lindner, M.;
Ensenauer, R.;
Santer, R.;
Bodamer, O. A.;
Baumgartner, M. R.;
Brunner-Krainz, M.;
Karall, D.;
Haase, C.;
Knerr, I.;
Marquardt, T.;
Hennermann, J. B.;
Steinfeld, R.;
Beblo, S.

Publication type:

Article

Mutation analysis in 54 propionic acidemia patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 51, doi. 10.1007/s10545-011-9399-0

By:

Kraus, J. P.;
Spector, E.;
Venezia, S.;
Estes, P.;
Chiang, P. W.;
Creadon-Swindell, G.;
Müllerleile, S.;
de Silva, L.;
Barth, M.;
Walter, M.;
Walter, K.;
Meissner, T.;
Lindner, M.;
Ensenauer, R.;
Santer, R.;
Bodamer, O. A.;
Baumgartner, M. R.;
Brunner-Krainz, M.;
Karall, D.;
Haase, C.

Publication type:

Article

Characterization of seven novel mutations in seven patients with GAMT deficiency.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9238

By:

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.

Publication type:

Article

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

Published in:

European Journal of Endocrinology, 2012, v. 167, n. 1, p. 131, doi. 10.1530/EJE-12-0197

By:

Seidel, M. G.;
Rami, B.;
Item, C.;
Schober, E.;
Zeitlhofer, P.;
Huber, W. D.;
Heitger, A.;
Bodamer, O. A.;
Haas, O. A.

Publication type:

Article

Effects of fish oil supplementation on apolipoprotein B100 production and lipoprotein metabolism in normolipidaemic males.

Published in:

1998

By:

Bordin, P;
Bodamer, O A;
Venkatesan, S;
Gray, R M;
Bannister, P A;
Halliday, D

Publication type:

journal article

Severe Speech Delay as the Presenting Symptom of Guanidinoacetate Methyltransferase Deficiency.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 6, p. 773, doi. 10.1177/0883073807304015

By:

Vodopiutz, J.;
Item, C. B.;
Häusler, M.;
Korall, H.;
Bodamer, O. A.

Publication type:

Article