S Beblo

Affiliations

Department of Women and Child Health, Center for Pediatric Research Leipzig, Hospital for Children and Adolescents, University Hospitals, Leipzig, Germany.

Publications (24)

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

The Journal of pediatrics

Avec: Laila Arash-Kaps , Katalin Komlosi , Marlene Seegräber , Stefan Diederich , Eduard Paschke , Yasmina Amraoui , Skadi Beblo , Andrea Dieckmann , Martin Smitka , Julia B Hennermann

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

European journal of human genetics : EJHG

Avec: Julia Klau , Rami Abou Jamra , Maximilian Radtke , Henry Oppermann , Johannes R Lemke , Skadi Beblo , Bernt Popp

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.

Journal of inherited metabolic disease

Avec: Ulrike Mütze , Lucy Henze , Florian Gleich , Martin Lindner , Sarah C Grünert , Ute Spiekerkoetter , René Santer , Holger Blessing , Eva Thimm , Regina Ensenauer , Johannes Weigel , Skadi Beblo , Maria Arélin , Julia B Hennermann , Thorsten Marquardt , Iris Marquardt , Peter Freisinger , Johannes Krämer , Andrea Dieckmann , Natalie Weinhold , Mareike Keller , Magdalena Walter , Katharina A Schiergens , Esther M Maier , Georg F Hoffmann , Sven F Garbade , Stefan Kölker

Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study.

Clinical oral investigations

Avec: Anne Carolin Bingöl , Memduh Bingöl , Nikolaos Pandis , Simone Stolz , Skadi Beblo , Paul-Georg Jost-Brinkmann , Eberhard Mönch , Theodosia Bartzela

Oral microbiota of patients with phenylketonuria: A nation-based cross-sectional study.

Journal of clinical periodontology

Avec: Memduh Bingöl , Alessio Cardilli , Anne Carolin Bingöl , Ulrike Löber , Corinna Bang , Andre Franke , Theodosia Bartzela , Skadi Beblo , Eberhard Mönch , Simone Stolz , Arne S Schaefer , Sofia Kirke Forslund , Gesa M Richter

Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA).

Molecular genetics and metabolism

Avec: Anne Tomm , Alena G Thiele , Carmen Rohde , Stefanie Kirmse , Wieland Kiess , Skadi Beblo

PKU dietary handbook to accompany PKU guidelines.

Orphanet journal of rare diseases

Avec: A MacDonald , A M J van Wegberg , K Ahring , S Beblo , A Bélanger-Quintana , A Burlina , J Campistol , T Coşkun , F Feillet , M Giżewska , S C Huijbregts , V Leuzzi , F Maillot , A C Muntau , J C Rocha , C Romani , F Trefz , F J van Spronsen

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

Orphanet journal of rare diseases

Avec: Carmen Rohde , Alena Gerlinde Thiele , Christoph Baerwald , Rudolf Georg Ascherl , Dinah Lier , Ulrike Och , Christina Heller , Alexandra Jung , Kathrin Schönherr , Monika Joerg-Streller , Simone Luttat , Sabine Matzgen , Tina Winkler , Stefanie Rosenbaum-Fabian , Oxana Joos , Skadi Beblo

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

Molecular genetics and metabolism

Avec: R A F Evers , A M J van Wegberg , K Ahring , S Beblo , A Bélanger-Quintana , A M Bosch , A Burlina , J Campistol , T Coskun , F Feillet , M Giżewska , S C J Huijbregts , S Kearney , M Langeveld , V Leuzzi , F Maillot , A C Muntau , J C Rocha , C Romani , F K Trefz , A MacDonald , F J van Spronsen

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Genome medicine

Avec: Vicente A Yépez , Mirjana Gusic , Robert Kopajtich , Christian Mertes , Nicholas H Smith , Charlotte L Alston , Rui Ban , Skadi Beblo , Riccardo Berutti , Holger Blessing , Elżbieta Ciara , Felix Distelmaier , Peter Freisinger , Johannes Häberle , Susan J Hayflick , Maja Hempel , Yulia S Itkis , Yoshihito Kishita , Thomas Klopstock , Tatiana D Krylova , Costanza Lamperti , Dominic Lenz , Christine Makowski , Signe Mosegaard , Michaela F Müller , Gerard Muñoz-Pujol , Agnieszka Nadel , Akira Ohtake , Yasushi Okazaki , Elena Procopio , Thomas Schwarzmayr , Joél Smet , Christian Staufner , Sarah L Stenton , Tim M Strom , Caterina Terrile , Frederic Tort , Rudy Van Coster , Arnaud Vanlander , Matias Wagner , Manting Xu , Fang Fang , Daniele Ghezzi , Johannes A Mayr , Dorota Piekutowska-Abramczuk , Antonia Ribes , Agnès Rötig , Robert W Taylor , Saskia B Wortmann , Kei Murayama , Thomas Meitinger , Julien Gagneur , Holger Prokisch

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.

Journal of inherited metabolic disease

Avec: E M Charlotte Märtner , Esther M Maier , Katharina Mengler , Eva Thimm , Katharina A Schiergens , Thorsten Marquardt , René Santer , Natalie Weinhold , Iris Marquardt , Anibh M Das , Peter Freisinger , Sarah C Grünert , Judith Vossbeck , Robert Steinfeld , Matthias R Baumgartner , Skadi Beblo , Andrea Dieckmann , Andrea Näke , Martin Lindner , Jana Heringer-Seifert , Dominic Lenz , Georg F Hoffmann , Chris Mühlhausen , Regina Ensenauer , Sven F Garbade , Stefan Kölker , Nikolas Boy

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

Journal of inherited metabolic disease

Avec: Karina Grohmann-Held , Peter Burgard , Christoph G O Baerwald , Skadi Beblo , Stephan Vom Dahl , Anibh Das , Katharina Dokoupil , Sandra Fleissner , Peter Freisinger , Margret Heddrich-Ellerbrok , Alexandra Jung , Vanessa Korpel , Johannes Krämer , Dinah Lier , Esther M Maier , Uta Meyer , Chris Mühlhausen , Martha Newger , Ulrike Och , Ursula Plöckinger , Stefanie Rosenbaum-Fabian , Frank Rutsch , René Santer , Petra Schick , Martin Schwarz , Ute Spiekerkötter , Ursula Strittmatter , Alena G Thiele , Athanasia Ziagaki , Ulrike Mütze , Florian Gleich , Sven F Garbade , Stefan Kölker

Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency.

Neuropediatrics

Avec: Maria Arélin , Stephan Zierz , Uta Ceglarek , Mitja Heinemann , Skadi Beblo , Andreas Merkenschlager

The Angelman Syndrome Online Registry - A multilingual approach to support global research.

European journal of medical genetics

Avec: Ilona Krey , Constanze Heine , Marcel Frömming , Julia Herrmann , Rikke S Møller , Sarah Weckhuysen , Carolina Courage , Skadi Beblo , Steffen Syrbe , Johannes R Lemke

Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism.

Children (Basel, Switzerland)

Avec: Tanjana Harings , Martina Patrizia Neininger , Simone Eisenhofer , Alena Gerlinde Thiele , Wieland Kiess , Astrid Bertsche , Skadi Beblo , Thilo Bertsche

The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.

Orphanet journal of rare diseases

Avec: Tanjana Harings , Martina P Neininger , Simone Eisenhofer , Alena G Thiele , Wieland Kiess , Astrid Bertsche , Thilo Bertsche , Skadi Beblo

Psychological well-being of early and continuously treated phenylketonuria patients.

JIMD reports

Avec: Alena Gerlinde Thiele , Nicole Spieß , Rudolf Ascherl , Maria Arelin , Carmen Rohde , Wieland Kiess , Skadi Beblo

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

American journal of human genetics

Avec: Marija Dulovic-Mahlow , Joanne Trinh , Krishna Kumar Kandaswamy , Geir Julius Braathen , Nataliya Di Donato , Elisa Rahikkala , Skadi Beblo , Martin Werber , Victor Krajka , Øyvind L Busk , Hauke Baumann , Nouriya Abbas Al-Sannaa , Frauke Hinrichs , Rabea Affan , Nir Navot , Mohammed A Al Balwi , Gabriela Oprea , Øystein L Holla , Maximilian E R Weiss , Rami A Jamra , Anne-Karin Kahlert , Shivendra Kishore , Kristian Tveten , Melissa Vos , Arndt Rolfs , Katja Lohmann

Correction to: PKU dietary handbook to accompany PKU guidelines.

Orphanet journal of rare diseases

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

Scientific reports

Avec: E M Charlotte Märtner , Eva Thimm , Philipp Guder , Katharina A Schiergens , Frank Rutsch , Sylvia Roloff , Iris Marquardt , Anibh M Das , Peter Freisinger , Sarah C Grünert , Johannes Krämer , Matthias R Baumgartner , Skadi Beblo , Claudia Haase , Andrea Dieckmann , Martin Lindner , Andrea Näke , Georg F Hoffmann , Chris Mühlhausen , Magdalena Walter , Sven F Garbade , Esther M Maier , Stefan Kölker , Nikolas Boy

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Pediatrics

Avec: Katharina Mengler , Sven F Garbade , Florian Gleich , Eva Thimm , Petra May , Martin Lindner , Natalia Lüsebrink , Thorsten Marquardt , Vanessa Hübner , Johannes Krämer , Julia Neugebauer , Skadi Beblo , Claus Gillitzer , Sarah C Grünert , Julia B Hennermann , Clemens Kamrath , Iris Marquardt , Andrea Näke , Simona Murko , Sebastian Schmidt , Elena Schnabel , Svenja Lommer-Steinhoff , Georg F Hoffmann , Jan Beime , René Santer , Stefan Kölker , Ulrike Mütze

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Journal of inherited metabolic disease

Avec: Nikolas Boy , Chris Mühlhausen , Esther M Maier , Diana Ballhausen , Matthias R Baumgartner , Skadi Beblo , Peter Burgard , Kimberly A Chapman , Dries Dobbelaere , Jana Heringer-Seifert , Sandra Fleissner , Karina Grohmann-Held , Gabriele Hahn , Inga Harting , Georg F Hoffmann , Frank Jochum , Daniela Karall , Vassiliki Konstantopoulous , Michael B Krawinkel , Martin Lindner , E M Charlotte Märtner , Jean-Marc Nuoffer , Jürgen G Okun , Barbara Plecko , Roland Posset , Katja Sahm , Sabine Scholl-Bürgi , Eva Thimm , Magdalena Walter , Monique Williams , Stephan Vom Dahl , Athanasia Ziagaki , Johannes Zschocke , Stefan Kölker

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.

Journal of inherited metabolic disease

Avec: Ulrike Mütze , Lucy Henze , Julian Schröter , Florian Gleich , Martin Lindner , Sarah C Grünert , Ute Spiekerkoetter , René Santer , Eva Thimm , Regina Ensenauer , Johannes Weigel , Skadi Beblo , Maria Arélin , Julia B Hennermann , Iris Marquardt , Peter Freisinger , Johannes Krämer , Andrea Dieckmann , Natalie Weinhold , Katharina A Schiergens , Esther M Maier , Georg F Hoffmann , Sven F Garbade , Stefan Kölker

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Annals of clinical and translational neurology

Avec: Ulrike Mütze , Alina Ottenberger , Florian Gleich , Esther M Maier , Martin Lindner , Ralf A Husain , Katja Palm , Skadi Beblo , Peter Freisinger , René Santer , Eva Thimm , Stephan Vom Dahl , Natalie Weinhold , Karina Grohmann-Held , Claudia Haase , Julia B Hennermann , Alexandra Hörbe-Blindt , Clemens Kamrath , Iris Marquardt , Thorsten Marquardt , Robert Behne , Dorothea Haas , Ute Spiekerkoetter , Georg F Hoffmann , Sven F Garbade , Sarah C Grünert , Stefan Kölker

Réseau de co-auteurs

Skadi Beblo 21 collaborations

Stefan Kölker 8 collaborations

Martin Lindner 7 collaborations

Eva Thimm 7 collaborations

Peter Freisinger 7 collaborations

Esther M Maier 7 collaborations

Georg F Hoffmann 7 collaborations

Sven F Garbade 7 collaborations

Sarah C Grünert 6 collaborations

René Santer 6 collaborations

Iris Marquardt 6 collaborations

Andrea Dieckmann 5 collaborations

Julia B Hennermann 5 collaborations

Ulrike Mütze 5 collaborations

Florian Gleich 5 collaborations

Johannes Krämer 5 collaborations

Thorsten Marquardt 4 collaborations

Natalie Weinhold 4 collaborations

Katharina A Schiergens 4 collaborations

Wieland Kiess 4 collaborations

Chris Mühlhausen 4 collaborations

Ute Spiekerkoetter 3 collaborations

Regina Ensenauer 3 collaborations

Maria Arélin 3 collaborations

Magdalena Walter 3 collaborations

Alena G Thiele 3 collaborations

Carmen Rohde 3 collaborations

A MacDonald 3 collaborations

A M J van Wegberg 3 collaborations

K Ahring 3 collaborations

A Bélanger-Quintana 3 collaborations

A Burlina 3 collaborations

J Campistol 3 collaborations

F Feillet 3 collaborations

M Giżewska 3 collaborations

V Leuzzi 3 collaborations

F Maillot 3 collaborations

A C Muntau 3 collaborations

J C Rocha 3 collaborations

C Romani 3 collaborations

F J van Spronsen 3 collaborations

Alena Gerlinde Thiele 3 collaborations

E M Charlotte Märtner 3 collaborations

Matthias R Baumgartner 3 collaborations

Andrea Näke 3 collaborations

Nikolas Boy 3 collaborations

Karina Grohmann-Held 3 collaborations

Stephan Vom Dahl 3 collaborations

Johannes R Lemke 2 collaborations

Lucy Henze 2 collaborations

Holger Blessing 2 collaborations

Johannes Weigel 2 collaborations

Anne Carolin Bingöl 2 collaborations

Memduh Bingöl 2 collaborations

Simone Stolz 2 collaborations

Eberhard Mönch 2 collaborations

Theodosia Bartzela 2 collaborations

T Coşkun 2 collaborations

S C Huijbregts 2 collaborations

F Trefz 2 collaborations

Dinah Lier 2 collaborations

Ulrike Och 2 collaborations

Alexandra Jung 2 collaborations

Stefanie Rosenbaum-Fabian 2 collaborations

Dominic Lenz 2 collaborations

Katharina Mengler 2 collaborations

Anibh M Das 2 collaborations

Jana Heringer-Seifert 2 collaborations

Peter Burgard 2 collaborations

Sandra Fleissner 2 collaborations

Frank Rutsch 2 collaborations

Athanasia Ziagaki 2 collaborations

Tanjana Harings 2 collaborations

Simone Eisenhofer 2 collaborations

Astrid Bertsche 2 collaborations

Thilo Bertsche 2 collaborations

Claudia Haase 2 collaborations

Clemens Kamrath 2 collaborations

Laila Arash-Kaps 1 collaboration

Katalin Komlosi 1 collaboration

Marlene Seegräber 1 collaboration

Stefan Diederich 1 collaboration

Eduard Paschke 1 collaboration

Yasmina Amraoui 1 collaboration

Martin Smitka 1 collaboration

Julia Klau 1 collaboration

Rami Abou Jamra 1 collaboration

Maximilian Radtke 1 collaboration

Henry Oppermann 1 collaboration

Bernt Popp 1 collaboration

Mareike Keller 1 collaboration

Nikolaos Pandis 1 collaboration

Paul-Georg Jost-Brinkmann 1 collaboration

Alessio Cardilli 1 collaboration

Ulrike Löber 1 collaboration

Corinna Bang 1 collaboration

Andre Franke 1 collaboration

Arne S Schaefer 1 collaboration

Sofia Kirke Forslund 1 collaboration

Gesa M Richter 1 collaboration

Anne Tomm 1 collaboration

Stefanie Kirmse 1 collaboration

Christoph Baerwald 1 collaboration

Rudolf Georg Ascherl 1 collaboration

Christina Heller 1 collaboration

Kathrin Schönherr 1 collaboration

Monika Joerg-Streller 1 collaboration

Simone Luttat 1 collaboration

Sabine Matzgen 1 collaboration

Tina Winkler 1 collaboration

Oxana Joos 1 collaboration

R A F Evers 1 collaboration

A M Bosch 1 collaboration

T Coskun 1 collaboration

S C J Huijbregts 1 collaboration

S Kearney 1 collaboration

M Langeveld 1 collaboration

F K Trefz 1 collaboration

Vicente A Yépez 1 collaboration

Mirjana Gusic 1 collaboration

Robert Kopajtich 1 collaboration

Christian Mertes 1 collaboration

Nicholas H Smith 1 collaboration

Charlotte L Alston 1 collaboration

Rui Ban 1 collaboration

Riccardo Berutti 1 collaboration

Elżbieta Ciara 1 collaboration

Felix Distelmaier 1 collaboration

Johannes Häberle 1 collaboration

Susan J Hayflick 1 collaboration

Maja Hempel 1 collaboration

Yulia S Itkis 1 collaboration

Yoshihito Kishita 1 collaboration

Thomas Klopstock 1 collaboration

Tatiana D Krylova 1 collaboration

Costanza Lamperti 1 collaboration

Christine Makowski 1 collaboration

Signe Mosegaard 1 collaboration

Michaela F Müller 1 collaboration

Gerard Muñoz-Pujol 1 collaboration

Agnieszka Nadel 1 collaboration

Akira Ohtake 1 collaboration

Yasushi Okazaki 1 collaboration

Elena Procopio 1 collaboration

Thomas Schwarzmayr 1 collaboration

Joél Smet 1 collaboration

Christian Staufner 1 collaboration

Sarah L Stenton 1 collaboration

Tim M Strom 1 collaboration

Caterina Terrile 1 collaboration

Frederic Tort 1 collaboration

Rudy Van Coster 1 collaboration

Arnaud Vanlander 1 collaboration

Matias Wagner 1 collaboration

Manting Xu 1 collaboration

Fang Fang 1 collaboration

Daniele Ghezzi 1 collaboration

Johannes A Mayr 1 collaboration

Dorota Piekutowska-Abramczuk 1 collaboration

Antonia Ribes 1 collaboration

Agnès Rötig 1 collaboration

Robert W Taylor 1 collaboration

Saskia B Wortmann 1 collaboration

Kei Murayama 1 collaboration

Thomas Meitinger 1 collaboration

Julien Gagneur 1 collaboration

Holger Prokisch 1 collaboration

Judith Vossbeck 1 collaboration

Robert Steinfeld 1 collaboration

Christoph G O Baerwald 1 collaboration

Anibh Das 1 collaboration

Katharina Dokoupil 1 collaboration

Margret Heddrich-Ellerbrok 1 collaboration

Vanessa Korpel 1 collaboration

Uta Meyer 1 collaboration

Martha Newger 1 collaboration

Ursula Plöckinger 1 collaboration

Petra Schick 1 collaboration

Martin Schwarz 1 collaboration

Ute Spiekerkötter 1 collaboration

Ursula Strittmatter 1 collaboration

Stephan Zierz 1 collaboration

Uta Ceglarek 1 collaboration

Mitja Heinemann 1 collaboration

Andreas Merkenschlager 1 collaboration

Ilona Krey 1 collaboration

Constanze Heine 1 collaboration

Marcel Frömming 1 collaboration

Julia Herrmann 1 collaboration

Rikke S Møller 1 collaboration

Sarah Weckhuysen 1 collaboration

Carolina Courage 1 collaboration

Steffen Syrbe 1 collaboration

Martina Patrizia Neininger 1 collaboration

Martina P Neininger 1 collaboration

Nicole Spieß 1 collaboration

Rudolf Ascherl 1 collaboration

Maria Arelin 1 collaboration

Marija Dulovic-Mahlow 1 collaboration

Joanne Trinh 1 collaboration

Krishna Kumar Kandaswamy 1 collaboration

Geir Julius Braathen 1 collaboration

Nataliya Di Donato 1 collaboration

Elisa Rahikkala 1 collaboration

Martin Werber 1 collaboration

Victor Krajka 1 collaboration

Øyvind L Busk 1 collaboration

Hauke Baumann 1 collaboration

Nouriya Abbas Al-Sannaa 1 collaboration

Frauke Hinrichs 1 collaboration

Rabea Affan 1 collaboration

Nir Navot 1 collaboration

Mohammed A Al Balwi 1 collaboration

Gabriela Oprea 1 collaboration

Øystein L Holla 1 collaboration

Maximilian E R Weiss 1 collaboration

Rami A Jamra 1 collaboration

Anne-Karin Kahlert 1 collaboration

Shivendra Kishore 1 collaboration

Kristian Tveten 1 collaboration

Melissa Vos 1 collaboration

Arndt Rolfs 1 collaboration

Katja Lohmann 1 collaboration

Philipp Guder 1 collaboration

Sylvia Roloff 1 collaboration

Petra May 1 collaboration

Natalia Lüsebrink 1 collaboration

Vanessa Hübner 1 collaboration

Julia Neugebauer 1 collaboration

Claus Gillitzer 1 collaboration

Simona Murko 1 collaboration

Sebastian Schmidt 1 collaboration

Elena Schnabel 1 collaboration

Svenja Lommer-Steinhoff 1 collaboration

Jan Beime 1 collaboration

Diana Ballhausen 1 collaboration

Kimberly A Chapman 1 collaboration

Dries Dobbelaere 1 collaboration

Gabriele Hahn 1 collaboration

Inga Harting 1 collaboration

Frank Jochum 1 collaboration

Daniela Karall 1 collaboration

Vassiliki Konstantopoulous 1 collaboration

Michael B Krawinkel 1 collaboration

Jean-Marc Nuoffer 1 collaboration

Jürgen G Okun 1 collaboration

Barbara Plecko 1 collaboration

Roland Posset 1 collaboration

Katja Sahm 1 collaboration

Sabine Scholl-Bürgi 1 collaboration

Monique Williams 1 collaboration

Johannes Zschocke 1 collaboration

Julian Schröter 1 collaboration

Alina Ottenberger 1 collaboration

Ralf A Husain 1 collaboration

Katja Palm 1 collaboration

Alexandra Hörbe-Blindt 1 collaboration

Robert Behne 1 collaboration

Dorothea Haas 1 collaboration