Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Juan Darío Ortigoza-Escobar; Marta Molero-Luis; Angela Arias; Alfonso Oyarzabal; Niklas Darín; Mercedes Serrano; Angels Garcia-Cazorla; Mireia Tondo; María Hernández; Judit Garcia-Villoria; Mercedes Casado; Laura Gort; Johannes A. Mayr; Pilar Rodríguez-Pombo; Antonia Ribes; Rafael Artuch; Belén Pérez-Dueñas

doi:10.1093/brain/awv342

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Juan Darío Ortigoza-Escobar
, Marta Molero-Luis
, Angela Arias
, Alfonso Oyarzabal
, Niklas Darín
, Mercedes Serrano
, Angels Garcia-Cazorla
, Mireia Tondo
, María Hernández
, Judit Garcia-Villoria
, Mercedes Casado
, Laura Gort
, Johannes A. Mayr (Co-Autor/-in)
, Pilar Rodríguez-Pombo
, Antonia Ribes
, Rafael Artuch
, Belén Pérez-Dueñas

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

50 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	31-38
Fachzeitschrift	BRAIN
Jahrgang	139
Ausgabenummer	Pt 1
DOIs	https://doi.org/10.1093/brain/awv342
Publikationsstatus	Veröffentlicht - 2016

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10.1093/brain/awv342

Dieses zitieren

Ortigoza-Escobar, J. D., Molero-Luis, M., Arias, A., Oyarzabal, A., Darín, N., Serrano, M., Garcia-Cazorla, A., Tondo, M., Hernández, M., Garcia-Villoria, J., Casado, M., Gort, L., Mayr, J. A., Rodríguez-Pombo, P., Ribes, A., Artuch, R., & Pérez-Dueñas, B. (2016). Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. BRAIN , 139(Pt 1), 31-38. https://doi.org/10.1093/brain/awv342

Ortigoza-Escobar, Juan Darío ; Molero-Luis, Marta ; Arias, Angela et al. / Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. in: BRAIN 2016 ; Jahrgang 139, Nr. Pt 1. S. 31-38.

@article{d5e479bfd8224977998388465be97edc,

title = "Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.",

keywords = "BASAL GANGLIA DISEASE, EXOME SEQUENCING REVEALS, PYROPHOSPHOKINASE DEFICIENCY, SLC19A3, MUTATIONS, ENCEPHALOPATHY, INFANTILE, CHILDREN, PYRUVATE",

author = "Ortigoza-Escobar, \{Juan Dar{\'i}o\} and Marta Molero-Luis and Angela Arias and Alfonso Oyarzabal and Niklas Dar{\'i}n and Mercedes Serrano and Angels Garcia-Cazorla and Mireia Tondo and Mar{\'i}a Hern{\'a}ndez and Judit Garcia-Villoria and Mercedes Casado and Laura Gort and Mayr, \{Johannes A.\} and Pilar Rodr{\'i}guez-Pombo and Antonia Ribes and Rafael Artuch and Bel{\'e}n P{\'e}rez-Due{\~n}as",

note = "Mayr: Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria",

year = "2016",

doi = "10.1093/brain/awv342",

language = "English",

volume = "139",

pages = "31--38",

journal = "BRAIN ",

issn = "0006-8950",

publisher = "Oxford Univ Press",

number = "Pt 1",

}

Ortigoza-Escobar, JD, Molero-Luis, M, Arias, A, Oyarzabal, A, Darín, N, Serrano, M, Garcia-Cazorla, A, Tondo, M, Hernández, M, Garcia-Villoria, J, Casado, M, Gort, L, Mayr, JA, Rodríguez-Pombo, P, Ribes, A, Artuch, R & Pérez-Dueñas, B 2016, 'Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.', BRAIN , Jg. 139, Nr. Pt 1, S. 31-38. https://doi.org/10.1093/brain/awv342

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. / Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela et al.
in: BRAIN , Jahrgang 139, Nr. Pt 1, 2016, S. 31-38.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

AU - Ortigoza-Escobar, Juan Darío

AU - Molero-Luis, Marta

AU - Arias, Angela

AU - Oyarzabal, Alfonso

AU - Darín, Niklas

AU - Serrano, Mercedes

AU - Garcia-Cazorla, Angels

AU - Tondo, Mireia

AU - Hernández, María

AU - Garcia-Villoria, Judit

AU - Casado, Mercedes

AU - Gort, Laura

AU - Mayr, Johannes A.

AU - Rodríguez-Pombo, Pilar

AU - Ribes, Antonia

AU - Artuch, Rafael

AU - Pérez-Dueñas, Belén

N1 - Mayr: Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria

PY - 2016

Y1 - 2016

KW - BASAL GANGLIA DISEASE

KW - EXOME SEQUENCING REVEALS

KW - PYROPHOSPHOKINASE DEFICIENCY

KW - SLC19A3

KW - MUTATIONS

KW - ENCEPHALOPATHY

KW - INFANTILE

KW - CHILDREN

KW - PYRUVATE

U2 - 10.1093/brain/awv342

DO - 10.1093/brain/awv342

M3 - Original Article

C2 - 26657515

SN - 0006-8950

VL - 139

SP - 31

EP - 38

JO - BRAIN

JF - BRAIN

IS - Pt 1

ER -

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M et al. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. BRAIN . 2016;139(Pt 1):31-38. doi: 10.1093/brain/awv342