Sylvia Stöckler‐Ipsiroglu

5.7k citations

103 papers · 2.5k indexed · h-index 30

Clinical Biochemistry top 0.1%
- Metabolism and Genetic Disorders 66
Cell Biology top 1%
- Muscle metabolism and nutrition 19
Biochemistry top 2%
Rheumatology top 2%
- Folate and B Vitamins Research 17
- Glycogen Storage Diseases and Myoclonus 10
Physiology top 5%
- Diet and metabolism studies 13
Molecular Biology
- Biochemical and Molecular Research 13
- Mitochondrial Function and Pathology 12
Genetics
- Genomics and Rare Diseases 12

Co-authors: Adolf Mühl Carmen Stromberger Olaf A. Bodamer Clara van Karnebeek Chike Bellarmine Item Barbara Plecko Saadet Mercimek‐Mahmutoglu Clara DM van Karnebeek
Cited by: Clinical Biochemistry Cell Biology Biochemistry
Journals: The Lancet (1 paper)Blood (1 paper)PEDIATRICS (1 paper)
Partner nations: Canada Austria United States

In The Last Decade

Sylvia Stöckler‐Ipsiroglu

102 papers receiving 2.4k citations

Peers

Countries citing papers authored by Sylvia Stöckler‐Ipsiroglu

Since Specialization

Citations

This map shows the geographic impact of Sylvia Stöckler‐Ipsiroglu's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Sylvia Stöckler‐Ipsiroglu with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Sylvia Stöckler‐Ipsiroglu more than expected).

Fields of papers citing papers by Sylvia Stöckler‐Ipsiroglu

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Sylvia Stöckler‐Ipsiroglu. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Sylvia Stöckler‐Ipsiroglu. The network helps show where Sylvia Stöckler‐Ipsiroglu may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Sylvia Stöckler‐Ipsiroglu, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Sylvia Stöckler‐Ipsiroglu Line = papers co-authored together Sylvia Stöckler‐Ipsiroglu links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada JAMA Network Open ·Deirdre Weymann,John Buckell,Patrick Fahr,Rosalie Loewen,Morgan Ehman,Samantha Pollard,Jan M. Friedman,Sylvia Stöckler‐Ipsiroglu,Alison M. Elliott,Sarah Wordsworth,James Buchanan,Dean A. Regier	2024	2
2	Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines—How to Overcome the Current Conundrum? Nutrients ·S. McWilliams,Olivia Hill,O. Ipsiroglu,Stefan Clemens,Alexander Mark Weber,Michael Chen,James R. Connor,Barbara T. Felt,Mauro Manconi,André Mattman,Rosalia Silvestri,Narong Simakajornboon,Susan M. Smith,Sylvia Stöckler‐Ipsiroglu	2024	3
3	Toward the diagnosis of rare childhood genetic diseases: what do parents value most? European Journal of Human Genetics ·Samantha Pollard,Deirdre Weymann,Jessica L. Dunne,Fatemeh Mayanloo,John Buckell,James Buchanan,Sarah Wordsworth,Jan M. Friedman,Sylvia Stöckler‐Ipsiroglu,Nick Dragojlovic,Alison M. Elliott,Mark Harrison,Larry D. Lynd,Dean A. Regier	2021	29
4	Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype JIMD Reports ·Sylvia Stöckler‐Ipsiroglu,Nahid Yazdanpanah,Mojgan Yazdanpanah,Marioara Moisa Popurs,Nataliya Yuskiv,Mara Lúcia Schmitz Ferreira Santos,Chong Ae Kim,Carolina Fischinger Moura de Souza,Charles Marques Lourenço,Carlos Eduardo Steiner,Andressa Federhen,Luciana Giugliani,Débora Maria Bastos Pereira,Luz Elena Durán‐Carabali,Roberto Giugliani	2021	3
5	Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app Orphanet Journal of Rare Diseases ·Eva M. M. Hoytema van Konijnenburg,Saskia B. Wortmann,Marina J. Koelewijn,Laura A. Tseng,Roderick F.A. Houben,Sylvia Stöckler‐Ipsiroglu,Carlos R. Ferreira,Clara D.M. van Karnebeek	2021	49
6	Developments in evidence creation for treatments of inborn errors of metabolism Journal of Inherited Metabolic Disease ·Sylvia Stöckler‐Ipsiroglu,Beth K. Potter,Nataliya Yuskiv,Kylie Tingley,Marc C. Patterson,Clara D.M. van Karnebeek	2020	14
7	Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex International Journal of Molecular Sciences ·Nataliya Yuskiv,Katsumi Higaki,Sylvia Stöckler‐Ipsiroglu	2020	15
8	Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex JIMD Reports ·Iman S. Abumansour,Nataliya Yuskiv,Eduard Paschke,Sylvia Stöckler‐Ipsiroglu	2019	13
9	Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency Molecular Genetics and Metabolism Reports ·Delia Apatean,Bojana Rakić,Catherine Brunel‐Guitton,Glenda Hendson,Renkui Bai,Michael A. Sargent,Pascal M. Lavoie,Millan S. Patel,Sylvia Stöckler‐Ipsiroglu	2019	7
10	Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition Molecular Genetics and Metabolism Reports ·Maria Bleier,Nataliya Yuskiv,Tina Priest,Marioara Angela Moisa Popurs,Sylvia Stöckler‐Ipsiroglu	2018	12
11	Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum Pediatric Neurology ·Clara van Karnebeek,Sylvia A. Tiebout,J.M.F. Niermeijer,Bwee Tien Poll‐The,Aisha Ghani,Curtis R. Coughlin,Johan L.K. Van Hove,Jost Wigand Richter,Hans Juergen Christen,Renata C. Gallagher,Hans Hartmann,Sylvia Stöckler‐Ipsiroglu	2016	108
12	A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening Molecular Genetics and Metabolism ·Graham Sinclair,Clara van Karnebeek,Manuel Ester,Frances Boyd,Tanya N. Nelson,Sylvia Stöckler‐Ipsiroglu,Hilary Vallance	2016	14
13	Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements Pediatric Neurology ·Sravan Jaggumantri,Mary Dunbar,Vanessa Edgar,Cristina Mignone,Theresa Newlove,Rajavel Elango,Jean Paul Collet,Michael A. Sargent,Sylvia Stöckler‐Ipsiroglu,Clara van Karnebeek	2015	20
14	The genotypic and phenotypic spectrum of PIGA deficiency Orphanet Journal of Rare Diseases ·Maja Tarailo‐Graovac,Graham Sinclair,Sylvia Stöckler‐Ipsiroglu,Margot Van Allen,Jacob Rozmus,Casper Shyr,Roberta Biancheri,Tracey Oh,Bryan Sayson,Mirafe Lafek,Colin J.D. Ross,Wendy P. Robinson,Wyeth W. Wasserman,Andrea Rossi,Clara DM van Karnebeek	2015	58
15	Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities Molecular Genetics and Metabolism ·Bryan Sayson,Marioara Angela Moisa Popurs,Mirafe Lafek,Ruth Berkow,Sylvia Stöckler‐Ipsiroglu,Clara van Karnebeek	2015	12
16	Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria Molecular Genetics and Metabolism ·Martina Huemer,Manuela Födinger,Olaf A. Bodamer,Adolf Mühl,Marion Herle,Claudia Weigmann,Hanno Ulmer,Sylvia Stöckler‐Ipsiroglu,Dorothea Möslinger	2008	17
17	Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle Molecular Genetics and Metabolism ·Regina Ensenauer,T Thiel,Karl Otfried Schwab,Uta Tacke,Sylvia Stöckler‐Ipsiroglu,Andreas Schulze,Jürgen Hennig,W. Lehnert	2004	43
18	Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the β3-adrenergic receptor genes European Journal of Pediatrics ·Ali Fatemi,Chike Bellarmine Item,Sylvia Stöckler‐Ipsiroglu,O. Ipsiroglu,Wolfgang Sperl,Wolfgang Patsch,Wolfgang Strobl	2002	7
19	Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect Annals of Neurology ·Marjo S. van der Knaap,Nanda M. Verhoeven,P. D. Maaswinkel‐Mooij,Petra J. W. Pouwels,Wim Onkenhout,E Peeters,Sylvia Stöckler‐Ipsiroglu,Cornelius Jakobs	2000	18
20	Cerebral blood flow velocities in an infant with moyamoya disease Pediatric Neurology ·O. Ipsiroglu,Florian Eichler,Sylvia Stöckler‐Ipsiroglu,Sigfried Trattnig	1999	3

About Sylvia Stöckler‐Ipsiroglu

Sylvia Stöckler‐Ipsiroglu is a scholar working on Clinical Biochemistry, Rheumatology and Biochemistry, having authored 103 papers that have together received 2.5k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (66 papers), Muscle metabolism and nutrition (19 papers), Folate and B Vitamins Research (17 papers), Biochemical and Molecular Research (13 papers), Diet and metabolism studies (13 papers), Genomics and Rare Diseases (12 papers), Mitochondrial Function and Pathology (12 papers) and Glycogen Storage Diseases and Myoclonus (10 papers). The work is most often cited by research in Clinical Biochemistry (1.3k citations), Cell Biology (762 citations) and Biochemistry (267 citations). Sylvia Stöckler‐Ipsiroglu has collaborated with scholars based in Canada, Austria and United States. Frequent co-authors include Adolf Mühl, Carmen Stromberger, Olaf A. Bodamer, Clara van Karnebeek, Chike Bellarmine Item, Barbara Plecko, Saadet Mercimek‐Mahmutoglu, Clara DM van Karnebeek, Maria Cristina Bianchi and Giovanni Cioni. Their work appears in journals such as The Lancet, Blood and PEDIATRICS.

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