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1

Kabuki syndrome: international consensus diagnostic criteria

Adam, Margaret P, Banka, Siddharth, Bjornsson, Hans T, Bodamer, Olaf, Chudley, Albert E, Harris, Jaqueline, Kawame, Hiroshi, Lanpher, Brendan C, Lindsley, Andrew W, Merla, Giuseppe, Miyake, Noriko, Ok

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

2

Creatine metabolism in combined methylmalonic aciduria and homocystinuria

Olaf A. Bodamer, Trilochan Sahoo, Arthur L. Beaudet, William E. O'Brien, Teodoro Bottiglieri, Sylvia Stöckler-Ipsiroglu, Conrad Wagner, Fernando Scaglia

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

3

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Reinhard Ramsebner, Martin Ludwig, Thomas Parzefall, Trevor Lucas, Wolf-Dieter Baumgartner, Olaf Bodamer, Filiz Basak Cengiz, Christian Schoefer, Mustafa Tekin, Klemens Frei

Journal:

The Laryngoscope

Year:

2010

Language:

english

File:

PDF, 899 KB

english, 2010

4

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampm

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 427 KB

english, 2011

5

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 275 KB

english, 2012

6

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Camp, Kathryn M., Parisi, Melissa A., Acosta, Phyllis B., Berry, Gerard T., Bilder, Deborah A., Blau, Nenad, Bodamer, Olaf A., Brosco, Jeffrey P., Brown, Christine S., Burlina, Alberto B., Burton, Bar

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 869 KB

english, 2014

7

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 443 KB

english, 2014

8

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Wang, Raymond Y, Bodamer, Olaf A, Watson, Michael S, Wilcox, William R

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 1.39 MB

english, 2011

9

Novel small molecule therapy development for MPS I

Brothers, Shaun, Volmar, Claude-Henry, Bodamer, Olaf, Hayward, Marshall, Wahlestedt, Claes

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 47 KB

english, 2018

10

Deletion (9) (p13.1 p21.1)

Scaglia, Fernando, Bodamer, Olaf A.F., Berend, Sue Ann, Adam, Louise R., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 119 KB

english, 2000

11

Familial complex chromosomal rearrangement resulting in a recombinant chromosome

Sue Ann Berend, Olaf A.F. Bodamer, Stuart K. Shapira, Lisa G. Shaffer, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 4.38 MB

english, 2002

12

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

Olaf A.F. Bodamer, Heather J. Church, Alan Cooper, J. Ed Wraith, C. Ronald Scott, Fernando Scaglia

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

13

Central nervous system malformations in oral-facial-digital syndrome, type 1

Margareta Holub, Lorraine Potocki, Olaf A. Bodamer

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 28 KB

english, 2005

14

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: Delineation of a new syndrome

Karin Tuschl, Barbara Fritz, Marion Herle, Christa Fonatsch, Olaf A Bodamer

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 136 KB

english, 2007

15

Reply

Olaf A. Bodamer, Fernando Scaglia

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

16

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria

Kristina A. Strnadová, Felix Votava, Jan Lebl, Adolf Mühl, Chike Item, Olaf A. Bodamer, Toni Torresani, Ivan Bouška, Franz Waldhauser, Wolfgang Sperl

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 87 KB

english, 2007

17

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

J. Edmond Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meirleir, Nathalie Guffon, Allan Meldgaard Lund, Gunilla Malm, Ans T. Van der Ploeg, Jiri Zeman

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 307 KB

english, 2008

18

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

Joseph Muenzer, Olaf Bodamer, Barbara Burton, Lorne Clarke, Gudrun Schulze Frenking, Roberto Giugliani, Simon Jones, Maria Verónica Muñoz Rojas, Maurizio Scarpa, Michael Beck, Paul Harmatz

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

19

Angeborene Stoffwechselstörungen

Journal:

Pädiatrie & Pädologie

Year:

2009

Language:

german

File:

PDF, 1.83 MB

german, 2009

20

Analysis of Acylcarnitine Ester for Neonatal Screening of Inborn Errors of Metabolism Using Tandem Mass-spectrometry

Olaf A. Bodamer, Adolf Mühl

Journal:

Monatshefte für Chemie - Chemical Monthly

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

21

Laboratory and genetic evaluation of Gaucher disease

Olaf A. Bodamer, Christina Hung

Journal:

Wiener Medizinische Wochenschrift

Year:

2010

Language:

english

File:

PDF, 130 KB

english, 2010

22

Fabry disease defined

C. Stromberger, Olaf A. Bodamer

Journal:

European Journal of Clinical Investigation

Year:

2004

Language:

english

File:

PDF, 39 KB

english, 2004

23

Low Levels of Asymmetric Dimethylarginine in Children with Diabetes Mellitus Type I Compared with Healthy Children

Martina Huemer, Burkhard Simma, Dieter Mayr, Adolf Mühl, Birgit Rami, Edith Schober, Hanno Ulmer, Ulrike Zanier, Olaf A. Bodamer

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

24

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Maïlys Guillard, Eva Morava, Jorg de Ruijter, Tony Roscioli, Johann Penzien, Lambert van den Heuvel, Michel A. Willemsen, Arjan de Brouwer, Olaf A. Bodamer, Ron A. Wevers, Dirk J. Lefeber

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

25

Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease

Carla E.M. Hollak, Johannes M.F.G. Aerts, Nadia Belmatoug, Bruno Bembi, Olaf Bodamer, Domenica Cappellini, Tanya Collin-Histed, Timothy M. Cox, Patrick Deegan, Pilar Giraldo, Derralynn Hughes, Elena L

Journal:

Blood Cells, Molecules, and Diseases

Year:

2010

Language:

english

File:

PDF, 110 KB

english, 2010

26

Early access experience with VPRIV®: Recommendations for ‘core data’ collection

Derralynn A. Hughes, Moeen Al-Sayed, Nadia Belmatoug, Olaf Bodamer, Tobias Böttcher, Maria Cappellini, Ian J. Cohen, Terence Eagleton, Deborah Elstein, Pilar Giraldo, Simon Jones, Chaim Kaplinsky, All

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 139 KB

english, 2011

27

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 A. Bodamer

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 108 KB

english, 2006

28

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of α-l-iduronidase mutations causing mucopolysaccharidosis type I

David C. Kasper, Furhan Iqbal, Lenka Dvorakova, Jiri Zeman, Martin Magner, Olaf Bodamer, Arnold Pollak, Kurt R. Herkner, Chike B. Item

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 292 KB

english, 2010

29

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

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

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 429 KB

english, 2010

30

Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing

Joseph J. Orsini, John Yeman, Olaf A. Bodamer, Adolf Mühl, Michele Caggana

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 159 KB

english, 2010

31

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry

Elisa Legini, Joseph J. Orsini, Christina Hung, Monica Martin, Amanda Showers, Maurizio Scarpa, X Kate Zhang, Joan Keutzer, Adolf Mühl, Olaf A. Bodamer

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 304 KB

english, 2011

32

Corrigendum to “Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry” [Clin. Chim. Acta 412 (2011) 343–346]

Elisa Legnini, Joseph J. Orsini, Christina Hung, Monica Martin, Amanda Showers, Maurizio Scarpa, X. Kate Zhang, Joan Keutzer, Adolf Mühl, Olaf A. Bodamer

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 89 KB

english, 2011

33

Lysosomal storage disorder 4 + 1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders

Joseph J. Orsini, Monica M. Martin, Amanda L. Showers, Olaf A. Bodamer, X. Kate Zhang, Michael H. Gelb, Michele Caggana

Journal:

Clinica Chimica Acta

Year:

2012

Language:

english

File:

PDF, 158 KB

english, 2012

34

Rapid analysis of total plasma homocysteine by tandem mass spectrometry

Karin Tuschl, Olaf A. Bodamer, Wolfgang Erwa, Adolf Mühl

Journal:

Clinica Chimica Acta

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

35

Prenatal and postnatal treatment in cobalamin C defect

Martina Huemer, Burkhard Simma, Brian Fowler, Terttu Suormala, Olaf A. Bodamer, Jörn Oliver Sass

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 127 KB

english, 2005

36

Mucopolysaccharidosis type II in females: Case report and review of literature

Karin Tuschl, Andreas Gal, Eduard Paschke, Susanne Kircher, Olaf A. Bodamer

Journal:

Pediatric Neurology

Year:

2005

Language:

english

File:

PDF, 56 KB

english, 2005

37

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

Chike Bellarmine Item, Ivana Mihalek, Oliver Lichtarge, Anil Jalan, Julia Vodopiutz, Adolf Muhl, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 367 KB

english, 2007

38

35 Newborn screening for lysosomal storage diseases—A reality?

Olaf Bodamer, A. Mühl

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

39

13. Natural history and treatment of MPS I: The MPS I Registry

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

40

48. An update on newborn screening for Pompe disease

Joan Keutzer, Wuh-Liang Hwu, Yin-Hsiu Chien, Olaf Bodamer, Adolf Mühl, X. Kate Zhang

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

41

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria

Martina Huemer, Manuela Födinger, Olaf A. Bodamer, Adolf Mühl, Marion Herle, Claudia Weigmann, Hanno Ulmer, Sylvia Stöckler-Ipsiroglu, Dorothea Möslinger

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 141 KB

english, 2008

42

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

Derrick R. Randall, Karen E. Colobong, Harmony Hemmelgarn, Graham B. Sinclair, Elly Hetty, Anita Thomas, Olaf A. Bodamer, Barbara Volkmar, Paul M. Fernhoff, Robin Casey, Alicia K. Chan, Grant Mitchell

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 424 KB

english, 2008

43

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

Saadet Mercimek-Mahmutoglu, Adolf Muehl, Gajja S. Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A. Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

44

Transcobalamin II deficiency at birth

Rene Ratschmann, Milen Minkov, Ana Kis, Christina Hung, Tony Rupar, Adolf Mühl, Brian Fowler, Ebba Nexo, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 222 KB

english, 2009

45

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, Maria L. Couce, Ana Duat, Maria P. Delgado, Joaquim Bosch, Alberto Puche, Jaume Campistol, Mercè Pineda, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

46

A novel tool for mapping disease severity and outcomes in patients with Gaucher disease utilising the therapeutic goals

Neal Weinreb, Nadia Belmatoug, Bruno Bembi, Olaf Bodamer, Maria Domenica Cappellini, Patrick B. Deegan, Deborah Elstein, Gil Faran, Pilar Gilrado, Derralynn A. Hughes, Eugen Mengel, Gregory M. Pastore

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

47

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency

Johannes A. Mayr, Olaf Bodamer, Tobias B. Haack, Franz A. Zimmermann, Florence Madignier, Holger Prokisch, Christian Rauscher, Johannes Koch, Wolfgang Sperl

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 514 KB

english, 2011

48

Patients with Type 1 Gaucher Disease in South Florida: Demographic Profile, DS3 Severity Scores and Therapeutic Goals Outcomes

Marissa Orenstein, Neal Weinreb, Olaf Bodamer, Deborah Barbouth

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

49

Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry

Olaf A Bodamer, Shannon M Bloesch, Anthony R Gregg, Silvia Stockler-Ipsiroglu, William E O'Brien

Journal:

Clinica Chimica Acta

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

50

Sublingual therapy for cobalamin deficiency

Olaf AF Bodamer, Fernando Scaglia

Journal:

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999