S. Wortmann
发表
Wyeth W. Wasserman,
Ron A. Wevers,
Clara D. M. van Karnebeek,
2018,
Journal of Inherited Metabolic Disease.
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
C. Ferreira,
C. V. van Karnebeek,
S. Wortmann,
2021,
Orphanet Journal of Rare Diseases.
S. Wortmann,
E. Morava,
L. Schreuder,
2010,
Journal of Inherited Metabolic Disease.
T. Wieland,
T. Meitinger,
T. Strom,
2014,
Molecular genetics and metabolism.
T. Meitinger,
T. Strom,
H. Prokisch,
2017,
Neuropediatrics.
Christian Gilissen,
Ilse Feenstra,
Nienke Wieskamp,
2013,
Human mutation.
J. Schuurs-Hoeijmakers,
J. Veltman,
W. Kloosterman,
2012,
Nature Genetics.
S. Wortmann,
M. Rubio-Gozalbo,
G. Visser,
2013,
Journal of Inherited Metabolic Disease.
R. Rodenburg,
R. Wevers,
S. Wortmann,
2015,
JIMD reports.
R. Rodenburg,
M. Huizing,
U. Engelke,
2009,
Brain : a journal of neurology.
S. Wortmann,
F. Mochel,
F. Vaz,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
S. Wortmann,
J. Smeitink,
M. Vries,
2009,
Journal of affective disorders.
S. Wortmann,
J. Creemers,
R. Mullaart,
2008,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Veiga-da-Cunha,
S. Wortmann,
T. Derks,
2020,
Blood.
S. Wortmann,
S. Grünert,
T. Derks,
2020,
Orphanet Journal of Rare Diseases.
S. Wortmann,
M. Janssen,
H. Zweers,
2021,
Orphanet Journal of Rare Diseases.
G. Rasp,
S. Wortmann,
S. Roesch,
2022,
The Laryngoscope.
Robert W. Taylor,
R. Rodenburg,
S. Wortmann,
2015,
Neuromuscular Disorders.
G. Matthijs,
R. Wevers,
S. Wortmann,
2011,
Biochimica et biophysica acta.
R. Wevers,
S. Wortmann,
U. Kornak,
2010,
American journal of medical genetics. Part A.
E. Werner,
K. Watschinger,
M. Keller,
2018,
Proceedings of the National Academy of Sciences.
S. Wortmann,
C. Thiel,
D. Lefeber,
2021,
Journal of inherited metabolic disease.
H. Prokisch,
S. Wortmann,
J. Mayr,
2018,
Neuropediatrics.
R. Wevers,
S. Wortmann,
E. Morava,
2009,
Journal of Inherited Metabolic Disease.
S. Waisbren,
M. Hochuli,
S. Wortmann,
2019,
Orphanet Journal of Rare Diseases.
S. Wortmann,
C. Hollak,
K. Õunap,
2017,
Fertility and sterility.
R. Rodenburg,
R. Wevers,
S. Wortmann,
2013,
Journal of the Neurological Sciences.
S. Wortmann,
R. Fingerhut,
J. Häberle,
2021,
International journal of neonatal screening.
M. Hegde,
M. Huigen,
L. Kluijtmans,
2020,
Genetics in medicine : official journal of the American College of Medical Genetics.
Robert W. Taylor,
Alexis A. Jourdain,
V. Mootha,
2017,
American journal of human genetics.
M. Janssen,
S. Wortmann,
L. Kluijtmans,
2014,
BBA Clinical.
L. Vissers,
A. Hoischen,
H. Prokisch,
2022,
Journal of inherited metabolic disease.
S. Wortmann,
E. Boltshauser,
J. Altmüller,
2020,
Genetics in Medicine.
U. Engelke,
L. Kluijtmans,
R. Wevers,
2010,
Journal of Inherited Metabolic Disease.
S. Wortmann,
J. Smeitink,
E. Morava,
2013,
Mitochondrion (Amsterdam. Print).
E. Bertini,
R. Carrozzo,
H. Prokisch,
2022,
American journal of human genetics.
R. Wevers,
S. Wortmann,
R. Dutkiewicz,
2020,
Biochimica et biophysica acta. General subjects.
D. Conrad,
C. Stanley,
S. Wortmann,
2016,
The Journal of pediatrics.
S. Mane,
T. Nägele,
T. Meitinger,
2020,
American journal of human genetics.
T. Meitinger,
B. Bender,
R. Schüle,
2017,
Journal of Medical Genetics.
Robert W. Taylor,
R. Rodenburg,
R. Wevers,
2012,
European journal of medical genetics.
H. Blom,
Y. Chien,
W. Hwu,
2015,
Orphanet Journal of Rare Diseases.
S. Wortmann,
B. Plecko,
D. Karall,
2020,
Diagnostics.
H. Prokisch,
S. Hanein,
A. Rötig,
2018,
American journal of human genetics.
I. Rivera,
P. Verloo,
D. Timson,
2020,
Genetics in Medicine.
R. Rodenburg,
S. Wortmann,
E. Morava,
2006,
Acta paediatrica.
D. Bosboom,
R. Wevers,
S. Wortmann,
2015,
Journal of Inherited Metabolic Disease.
S. Wortmann,
J. Mayr,
2019,
Journal of inherited metabolic disease.
L. de Meirleir,
R. Wevers,
S. Wortmann,
2015,
Neuropediatrics.
H. Prokisch,
J. Hentschel,
A. Gropman,
2022,
Nutrients.
S. Wortmann,
J. Mayr,
E. Canda,
2017,
JIMD reports.
R. Russell,
H. Prokisch,
C. Klein,
2019,
Genetics in Medicine.
R. Ganetzky,
H. Prokisch,
E. Eklund,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
S. Wortmann,
C. Erasmus,
K. van Hulst,
2016,
Journal of child neurology.
T. Wieland,
A. Munnich,
H. Smeets,
2018
.
S. Wortmann,
D. Karall,
E. Maier,
2018,
Orphanet Journal of Rare Diseases.
Robert W. Taylor,
H. Prokisch,
N. Hauser,
2015,
Journal of Inherited Metabolic Disease.
R. Rodenburg,
S. Wortmann,
J. Smeitink,
2009,
Pediatric Research.
H. Mizumoto,
S. Wortmann,
S. Grünert,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
W. Chan,
H. Prokisch,
F. Alkuraya,
2017,
Human mutation.
Richard J. Rodenburg,
R. Rodenburg,
S. Wortmann,
2015,
Journal of Inherited Metabolic Disease.
H. Prokisch,
S. Wortmann,
T. Haack,
2017,
Brain : a journal of neurology.
T. Meitinger,
T. Strom,
H. Prokisch,
2020,
EBioMedicine.
R. Carrozzo,
S. Wortmann,
T. Haack,
2017,
Clinica chimica acta; international journal of clinical chemistry.
Jasper Engel,
Christian Gilissen,
Saskia B Wortmann,
2018,
Journal of Inherited Metabolic Disease.
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
N. Stence,
S. Wortmann,
J. V. Van Hove,
2019,
Journal of inherited metabolic disease.
H. Prokisch,
A. Sickmann,
S. Wortmann,
2021,
International journal of molecular sciences.
C. Saunders,
S. Rahman,
S. Wortmann,
2017,
Journal of Inherited Metabolic Disease.
T. Meitinger,
T. Strom,
H. Prokisch,
2015,
American journal of human genetics.
M. Hegde,
M. Huigen,
L. Kluijtmans,
2020,
Genetics in Medicine.
Vicente A. Yépez,
H. Prokisch,
R. Rodenburg,
2019,
American journal of human genetics.
T. Meitinger,
T. Strom,
H. Prokisch,
2017,
Oxidative medicine and cellular longevity.
S. Wortmann,
2013
.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
Robert W. Taylor,
Vicente A. Yépez,
J. Gagneur,
2021,
Genome Medicine.
E. Bertini,
V. Tiranti,
R. Carrozzo,
2019,
The Journal of clinical investigation.
S. Wortmann,
J. Mayr,
R. Feichtinger,
2022,
Genes.
H. Mefford,
R. Møller,
M. Shinawi,
2020,
Genetics in Medicine.
R. Rodenburg,
S. Wortmann,
B. Küsters,
2020,
Clinical genetics.
Arjan,
T. Meitinger,
H. Prokisch,
2014
.
H. Prokisch,
S. Wortmann,
Laura S. Kremer,
2018,
Journal of Inherited Metabolic Disease.
J. Vockley,
S. Wortmann,
T. Derks,
2020,
Genetics in Medicine.
H. Prokisch,
K. Claeys,
R. Płoski,
2020,
Human mutation.
F. Benfenati,
H. Mandel,
E. Levanon,
2019,
Brain : a journal of neurology.
P. Heinrich,
G. Müller-Newen,
B. Giese,
2005,
Journal of Cell Science.
P. Striano,
H. Prokisch,
Matteo P. Ferla,
2022,
Human mutation.
Robert W. Taylor,
D. Fisk,
R. Weintraub,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Robert W. Taylor,
W. Chung,
D. Fisk,
2021,
Genetics in Medicine.
Dean P. Jones,
Petar Glažar,
N. Rajewsky,
2021,
Nature Communications.
A. Sinclair,
S. Rahman,
S. Wortmann,
2022,
The Journal of clinical endocrinology and metabolism.
S. Wortmann,
W. Sperl,
D. Weghuber,
2020,
Acta paediatrica.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
S. Lovell,
S. Ferdinandusse,
H. van Lenthe,
2019,
Brain : a journal of neurology.
R. Russell,
H. Prokisch,
C. Klein,
2019,
Genetics in Medicine.
Vicente A. Yépez,
J. Gagneur,
T. Meitinger,
2021,
medRxiv.
J. Rosenfeld,
J. Lupski,
D. Horn,
2020,
Genetics in Medicine.
Saskia B Wortmann,
Rolph Pfundt,
R. Pfundt,
2011,
European Journal of Human Genetics.
Saskia B Wortmann,
Eva Morava,
Martin Lammens,
2011,
European Journal of Human Genetics.
J. Lupski,
S. Ellard,
W. Yoon,
2020,
bioRxiv.
H. Prokisch,
S. Wortmann,
J. Mayr,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
H. Prokisch,
R. Jech,
R. Rodenburg,
2021,
Annals of neurology.
Robert W. Taylor,
Vicente A. Yépez,
J. Gagneur,
2021,
medRxiv.
H. Prokisch,
S. Wortmann,
G. Geddes,
2021,
Molecular genetics and metabolism.
Holger Prokisch,
Robert W. Taylor,
Langping He,
2019,
American journal of human genetics.
F. Woermann,
T. Meitinger,
Alexej Knaus,
2019,
Annals of clinical and translational neurology.
S. Wortmann,
D. Karall,
J. Mayr,
2018,
Biomedical Journal of Scientific & Technical Research.
H. Prokisch,
S. Wortmann,
W. Sperl,
2017,
Neuropediatrics.
J. Rosenfeld,
J. Lupski,
D. Horn,
2020,
Genetics in Medicine.
T. Meitinger,
T. Strom,
H. Prokisch,
2019,
Journal of inherited metabolic disease.
Laura C. Greaves,
Robert W. Taylor,
R. Rodenburg,
2013,
Human molecular genetics.
J. Christodoulou,
H. Venselaar,
R. Wevers,
2021,
Genetics in Medicine.
Robert W. Taylor,
C. Ross,
W. Wasserman,
2018,
Molecular genetics and metabolism.
Robert W. Taylor,
W. Chung,
H. Prokisch,
2017,
Annals of neurology.
Marni J. Falk,
R. Ganetzky,
H. Prokisch,
2020,
Neurology. Genetics.
V. Fellman,
Matteo P. Ferla,
Jenny C. Taylor,
2021,
Annals of clinical and translational neurology.
S. Wortmann,
S. Roesch,
A. Della Marina,
2020,
JIMD reports.
S. Antonarakis,
S. Ellard,
R. Truty,
2021,
Genetics in Medicine.
H. Prokisch,
K. Rostásy,
A. Blaschek,
2022,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
S. Wortmann,
S. Vermeer,
E. Morava,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. den Heijer,
R. Wevers,
S. Wortmann,
2011,
Molecular genetics and metabolism.
R. Wevers,
S. Wortmann,
E. Morava,
2005,
Journal of Inherited Metabolic Disease.
S. Wortmann,
J. Draaisma,
A. Warris,
2006,
Acta paediatrica.
R. Ganetzky,
H. Prokisch,
L. Schöls,
2022
.
M. Hegde,
L. Kluijtmans,
C. V. van Karnebeek,
2021,
Genetics in Medicine.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
R. Wevers,
S. Wortmann,
L. Al-Gazali,
2013,
American journal of medical genetics. Part A.
R. Wevers,
S. Wortmann,
E. Morava,
2011,
Journal of Inherited Metabolic Disease.
R. Rodenburg,
H. Venselaar,
S. Wortmann,
2014,
European Journal of Human Genetics.
Bernd Giese,
Andreas Herrmann,
Peter C. Heinrich,
2003,
Journal of Biological Chemistry.
S. Wortmann,
S. Grünert,
T. Derks,
2020,
Orphanet Journal of Rare Diseases.
T. Meitinger,
R. Maroofian,
H. Houlden,
2021,
Brain : a journal of neurology.
M. Durán,
R. Wevers,
S. Wortmann,
2013,
Journal of Inherited Metabolic Disease.
S. Wortmann,
M. Pronicki,
J. Trubicka,
2020
.
S. Wortmann,
T. Derks,
Sarah C. Grünert,
2023,
JIMD reports.
M. M. Schindler,
S. Wortmann,
H. H. Klein,
1994
.
W. Chung,
J. Volkmann,
T. Strom,
2020,
The Lancet Neurology.
R. Rodenburg,
M. Huizing,
U. Engelke,
2006,
Molecular genetics and metabolism.
L. Kluijtmans,
R. Wevers,
S. Wortmann,
2014,
JIMD reports.
S. Wortmann,
E. Morava,
2011,
Clinical Dysmorphology.
S. Wortmann,
E. Morava,
D. Lefeber,
2013,
JIMD reports.
J. Elson,
R. Wevers,
S. Wortmann,
2011,
Journal of Inherited Metabolic Disease.
R. Rodenburg,
S. Wortmann,
J. Smeitink,
2015,
Journal of Inherited Metabolic Disease.
G. Pruijn,
J. Veltman,
H. Prokisch,
2017,
Human mutation.
R. Wevers,
S. Wortmann,
S. Jacinto,
2017,
Neuropediatrics.
T. Strom,
H. Venselaar,
R. Maroofian,
2020,
Genetics in Medicine.
J. Cruysberg,
A. Graham,
U. Engelke,
2010,
Neurology.
R. Rodenburg,
F. Alkuraya,
T. Kleefstra,
2013,
Journal of Inherited Metabolic Disease.
S. Wortmann,
J. Mayr,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
C. Heyer,
M. Vorgerd,
S. Wortmann,
2014,
Neuropediatrics.
S. Wortmann,
W. Sperl,
J. Mayr,
2020,
Journal of mother and child.
H. Prokisch,
R. Rodenburg,
R. Houtkooper,
2016,
JIMD reports.
Robert W. Taylor,
T. Wieland,
A. Munnich,
2018,
Orphanet Journal of Rare Diseases.
E. Trinka,
S. Wortmann,
F. Rossini,
2023,
Frontiers in Neurology.
H. Prokisch,
F. Kortüm,
S. Wortmann,
2021,
Clinical genetics.
T. Meitinger,
T. Strom,
H. Prokisch,
2017,
Brain : a journal of neurology.
H. Huppertz,
J. Kassubek,
S. Wortmann,
2019,
Movement disorders clinical practice.
S. Wortmann,
E. Rapp,
C. Thiel,
2021,
EMBO molecular medicine.
F. Zimprich,
W. Löscher,
S. Wortmann,
2022,
Journal of Neurology.
Ellen F. Macnamara,
J. Constantino,
J. Graham,
2023,
Science advances.
S. Wortmann,
N. Voermans,
L. Al-Gazali,
2020,
Molecular genetics and metabolism.
H. Prokisch,
S. Wortmann,
E. Mayatepek,
2018,
Journal of Inherited Metabolic Disease.
S. Wortmann,
B. Latal,
J. Häberle,
2020,
Neuropediatrics.
S. Wortmann,
B. Latal,
J. Häberle,
2018,
Neuropediatrics.
H. Mefford,
W. Chung,
R. Møller,
2021,
Genetics in medicine : official journal of the American College of Medical Genetics.
G. Rasp,
S. Wortmann,
S. Roesch,
2020,
Laryngo-Rhino-Otologie.
W. Löscher,
S. Wortmann,
B. Plecko,
2021,
Journal of inherited metabolic disease.
W. Reardon,
J. Christodoulou,
U. Engelke,
2023,
Journal of inherited metabolic disease.
T. Strom,
C. Kim,
H. Venselaar,
2020,
Genetics in Medicine.
R. Wevers,
S. Wortmann,
E. Boltshauser,
2020,
Genetics in Medicine.
S. Wortmann,
B. Plecko,
D. Karall,
2021,
Orphanet Journal of Rare Diseases.
S. Wortmann,
J. Mayr,
R. Bittner,
2022,
Neuropediatrics.
M. Veiga-da-Cunha,
S. Wortmann,
E. Van Schaftingen,
2023,
Diagnostics.
E. Pai,
R. Rodenburg,
T. Yuzyuk,
2017,
Journal of Inherited Metabolic Disease.
Stephan J Sanders,
P. Striano,
G. Rubboli,
2023,
Annals of neurology.
S. Wortmann,
J. Mayr,
R. Feichtinger,
2023,
Genes.
H. Prokisch,
S. Wortmann,
B. V. D. van der Eerden,
2023,
Frontiers in Endocrinology.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
S. Wortmann,
T. Brunet,
N. Haas,
2021,
Neuropediatrics.
C. Ross,
W. Wasserman,
H. Prokisch,
2018,
Molecular genetics and metabolism.
N. van Alfen,
S. Wortmann,
Loes A. van Gemert,
2023,
Neuropediatrics.
S. Wortmann,
J. Jungwirth,
Elke Tiefenthaler,
2022,
Neuropediatrics.
H. Prokisch,
S. Wortmann,
Laura S. Kremer,
2018,
Journal of Inherited Metabolic Disease.
A. Munnich,
S. Bohlander,
W. Wurst,
2021,
Annals of neurology.
M. Patterson,
S. Wortmann,
J. Bierau,
2021,
Neurology.
P. Schlattmann,
K. Kaila,
F. Alkuraya,
2023,
Brain : a journal of neurology.
S. Wortmann,
J. Jans,
J. Mayr,
2023,
Metabolites.
Laura C. Greaves,
R. Rodenburg,
R. Lightowlers,
2022
.
R. Rodenburg,
R. Wevers,
S. Wortmann,
2013,
Journal of the Neurological Sciences.
T. Wieland,
T. Meitinger,
T. Strom,
2014,
Molecular genetics and metabolism.