All papers authored by Martina Huemer
Refreshing results…
2016
Andrew A. M. Morris,
Viktor Kožich,
Saikat Santra,
Generoso Andria,
Tawfeg I. M. Ben Omran,
Siobhan O'Sullivan,
Anupam B. Chakrapani,
Ellen Crushell,
Mick J. Henderson,
Michel Hochuli,
Miriam C. H. Janssen,
Martina Huemer 
,
Francois Maillot ,
Philip D. Mayne,
Jenny McNulty
and 10 other authors
,
Francois Maillot ,
Philip D. Mayne,
Jenny McNulty
and 10 other authors
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Download from doi.org
Martina Huemer ,
Daniel R. Carvalho,
Jaime M. Brum,
Özlem Ünal,
Turgay Coskun,
James D. Weisfeld-Adams,
Nina L. Schrager,
Sabine Scholl-Bürgi,
Andrea Schlune,
Markus G. Donner,
Martin Hersberger,
Claudio Gemperle,
Brunhilde Riesner,
Hanno Ulmer,
Johannes Häberle
and 1 other authors
,
Daniel R. Carvalho,
Jaime M. Brum,
Özlem Ünal,
Turgay Coskun,
James D. Weisfeld-Adams,
Nina L. Schrager,
Sabine Scholl-Bürgi,
Andrea Schlune,
Markus G. Donner,
Martin Hersberger,
Claudio Gemperle,
Brunhilde Riesner,
Hanno Ulmer,
Johannes Häberle
and 1 other authors
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
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Nina A. Zeltner,
Markus A. Landolt,
Sarah Lageder,
Julia Quitmann,
Matthias R. Baumgartner ,
Daniela Karall,
Rachel Sommer,
Chris Mühlhausen,
Andrea Schlune,
Sabine Scholl-Bürgi,
Martina Huemer
Download from dx.doi.org
,
Daniela Karall,
Rachel Sommer,
Chris Mühlhausen,
Andrea Schlune,
Sabine Scholl-Bürgi,
Martina Huemer
Download from dx.doi.org
2015
Martina Huemer ,
Regina Mulder-Bleile,
Patricie Burda,
D. Sean Froese,
D. Sean Froese ,
Terttu Suormala,
Bruria Ben Zeev,
Patrick F. Chinnery,
Carlo Dionisi-Vici,
Dries Dobbelaere,
Gülden Gökcay,
Mübeccel Demirkol,
Johannes Häberle,
Alexander Lossos,
Eugen Mengel
and 21 other authors
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,
Regina Mulder-Bleile,
Patricie Burda,
D. Sean Froese,
D. Sean Froese ,
Terttu Suormala,
Bruria Ben Zeev,
Patrick F. Chinnery,
Carlo Dionisi-Vici,
Dries Dobbelaere,
Gülden Gökcay,
Mübeccel Demirkol,
Johannes Häberle,
Alexander Lossos,
Eugen Mengel
and 21 other authors
Download from www.researchgate.net
Martina Huemer ,
Daniela Karall,
Anna Schossig,
Jose E. Abdenur,
Fatma,
Fatma Al Jasmi,
Al Jasmi,
Caroline Biagosch,
Felix Distelmaier,
Peter Freisinger,
Brett H. Graham,
Tobias B. Haack,
Natalie Hauser,
Jozef Hertecant,
Darius Ebrahimi-Fakhari
and 13 other authors
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,
Daniela Karall,
Anna Schossig,
Jose E. Abdenur,
Fatma,
Fatma Al Jasmi,
Al Jasmi,
Caroline Biagosch,
Felix Distelmaier,
Peter Freisinger,
Brett H. Graham,
Tobias B. Haack,
Natalie Hauser,
Jozef Hertecant,
Darius Ebrahimi-Fakhari
and 13 other authors
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Martina Huemer ,
Viktor Kožich,
Piero Rinaldo,
Matthias R. Baumgartner ,
Begoña Merinero,
Elisabetta Pasquini,
Antonia Ribes,
Henk J. Blom
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,
Viktor Kožich,
Piero Rinaldo,
Matthias R. Baumgartner ,
Begoña Merinero,
Elisabetta Pasquini,
Antonia Ribes,
Henk J. Blom
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Charlotte Thiels,
Martin Fleger,
Richard J. Rodenburg,
Frederic M. Vaz,
Martina Huemer ,
Holger Prokisch,
Riekelt H. Houtkooper,
Tobias B. Haack,
Thomas Lücke,
Johannes A. Mayr,
René G. Feichtinger,
Saskia B. Wortmann
,
Holger Prokisch,
Riekelt H. Houtkooper,
Tobias B. Haack,
Thomas Lücke,
Johannes A. Mayr,
René G. Feichtinger,
Saskia B. Wortmann
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
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2014
M. Huemer ,
C. Bürer,
P. Ješina,
V. Kožich,
M. A. Landolt,
T. Suormala,
B. Fowler,
P. Augoustides Savvopoulou,
E. Blair,
K. Brennerova,
A. Broomfield,
L. De Meirleir,
G. Gökcay,
J. Hennermann,
P. Jardine
and 12 other authors
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,
C. Bürer,
P. Ješina,
V. Kožich,
M. A. Landolt,
T. Suormala,
B. Fowler,
P. Augoustides Savvopoulou,
E. Blair,
K. Brennerova,
A. Broomfield,
L. De Meirleir,
G. Gökcay,
J. Hennermann,
P. Jardine
and 12 other authors
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Matthias R. Baumgartner ,
Friederike Hörster,
Carlo Dionisi-Vici,
Goknur Haliloglu,
Kimberly A. Chapman,
Daniela Karall,
Murielle Assoun,
Michel Hochuli,
Martina Huemer ,
Diana Ballhausen,
Alberto Burlina,
Brian Fowler,
Sarah C. Grünert,
Stephanie Grünewald,
Tomas Honzik
and 10 other authors
,
Friederike Hörster,
Carlo Dionisi-Vici,
Goknur Haliloglu,
Kimberly A. Chapman,
Daniela Karall,
Murielle Assoun,
Michel Hochuli,
Martina Huemer ,
Diana Ballhausen,
Alberto Burlina,
Brian Fowler,
Sarah C. Grünert,
Stephanie Grünewald,
Tomas Honzik
and 10 other authors
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Download from dx.doi.org
Andreas Hahn,
Susanne Praetorius,
Nesrin Karabul,
Johanna Dießel,
Dorle Schmidt,
Reinald Motz,
Claudia Haase,
Martina Baethmann,
Julia B. Hennermann,
Martin Smitka,
René Santer,
Nicole Muschol,
Ann Meyer,
Thorsten Marquardt,
Martina Huemer
and 4 other authors
Download from www.ncbi.nlm.nih.gov
and 4 other authors
Download from www.ncbi.nlm.nih.gov
Martina Huemer ,
Sabine Scholl-Bürgi,
Karine Hadaya,
Ilse Kern,
Ronny Beer,
Klaus Seppi,
Brian Fowler,
Matthias R. Baumgartner ,
Daniela Karall
Download from dx.doi.org
,
Sabine Scholl-Bürgi,
Karine Hadaya,
Ilse Kern,
Ronny Beer,
Klaus Seppi,
Brian Fowler,
Matthias R. Baumgartner ,
Daniela Karall
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Sabine Fischer,
Martina Huemer ,
Matthias Baumgartner ,
Federica Deodato,
Diana Ballhausen,
Avihu Boneh,
Alberto B. Burlina,
Roberto Cerone,
Paula Garcia,
Gülden Gökçay,
Stephanie Grünewald,
Johannes Häberle,
Jaak Jaeken,
David Ketteridge,
Martin Lindner
and 13 other authors
,
Matthias Baumgartner ,
Federica Deodato,
Diana Ballhausen,
Avihu Boneh,
Alberto B. Burlina,
Roberto Cerone,
Paula Garcia,
Gülden Gökçay,
Stephanie Grünewald,
Johannes Häberle,
Jaak Jaeken,
David Ketteridge,
Martin Lindner
and 13 other authors
Clinical presentation and outcome in a series of 88 patients with the cblC defect
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2013
Daniela Karall,
Sabine Scholl-Bürgi,
Gerlig Widmann,
Ursula Albrecht,
Katharina Niedermayr,
Kathrin Maurer,
Bernd Ausserer,
Martina Huemer ,
Reto Bale
,
Reto Bale
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders
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Xiaowu Gai,
Daniele Ghezzi,
Caroline A. Biagosch,
Mark A. Johnson,
Hanan E. Shamseldin,
Tobias B. Haack,
Aurelio Reyes,
Claire A. Sheldon,
Mai Tsukikawa,
Satish Srinivasan,
Matteo Gorza,
Laura S. Kremer,
Thomas Wieland,
Erzsebet Polyak,
Tim-M. Strom
and 25 other authors
Download from www.ncbi.nlm.nih.gov
Corinne M. Rüegger,
Martin Lindner,
Diana Ballhausen,
Matthias R. Baumgartner ,
Skadi Beblo,
Anibh Das,
Matthias Gautschi,
Esther M. Glahn,
Sarah C. Grünert,
Julia Hennermann,
Michel Hochuli,
Martina Huemer ,
Daniela Karall,
Stefan Kölker,
Robin H. Lachmann
and 13 other authors
,
Skadi Beblo,
Anibh Das,
Matthias Gautschi,
Esther M. Glahn,
Sarah C. Grünert,
Julia Hennermann,
Michel Hochuli,
Martina Huemer ,
Daniela Karall,
Stefan Kölker,
Robin H. Lachmann
and 13 other authors
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Download from link.springer.com
2012
Paige Kaplan,
Hagit Baris,
Linda De Meirleir,
Maja Di Rocco,
Amal El-Beshlawy,
Martina Huemer ,
Ana Maria Martins,
Ioana Nascu,
Marianne Rohrbach ,
Lynne Steinbach,
Ian J. Cohen
,
Ana Maria Martins,
Ioana Nascu,
Marianne Rohrbach ,
Lynne Steinbach,
Ian J. Cohen
Revised recommendations for the management of Gaucher disease in children
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