Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020)

Por: Opladen, T, Lopez-Laso, E, Cortes-Saladelafont, E, Pearson, TS, Sivri, HS, Yildiz, Y, Assmann, B, Kurian, MA, Leuzzi, V, Heales, S, Pope, S, Porta, F, Garcia-Cazorla, A, Honzik, T, Pons, R, Regal, L, Goez, H, Artuch, R, Hoffmann, GF, Horvath, G, Thony, B, Scholl-Burgi, S, Burlina, A, Verbeek, MM, Mastrangelo, M, Friedman, J, Wassenberg, T, Jeltsch, K, Kulhanek, J and Hubschmann, OK

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Publicada: 5 ago 2020 Ahead of Print: 5 ago 2020

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Filiaciones:
Opladen, T:
 Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany

Lopez-Laso, E:
 Univ Hosp Reina Sofia, IMIBIC, Dept Pediat, Pediat Neurol Unit, Cordoba, Spain

 CIBERER, Cordoba, Spain

:
 Inst Recerca St Joan de Deu, Inborn Errors Metab Unit, Barcelona, Spain

 CIBERER ISCIII, Barcelona, Spain

 Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Dept Pediat, Unit Pediat Neurol & Metab Disorders, Badalona, Spain

 Univ Autonoma Barcelona, Fac Med, Badalona, Spain

Pearson, TS:
 Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

Sivri, HS:
 Hacettepe Univ, Metab Sect, Dept Pediat, TR-06100 Ankara, Turkey

Yildiz, Y:
 Hacettepe Univ, Metab Sect, Dept Pediat, TR-06100 Ankara, Turkey

Assmann, B:
 Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany

Kurian, MA:
 UCL Great Ormond Street, Inst Child Hlth, Dev Neurosci, London, England

 Great Ormond St Hosp Sick Children, Dept Neurol, London, England

Leuzzi, V:
 Sapienza Univ Rome, Dept Human Neurosci, Unit Child Neurol & Psychiat, Rome, Italy

Heales, S:
 Natl Hosp, Neurometabol Unit, Queen Sq, London, England

Pope, S:
 Natl Hosp, Neurometabol Unit, Queen Sq, London, England

Porta, F:
 AOU Citta Salute & Sci, Dept Pediat, Turin, Italy

Garcia-Cazorla, A:
 Inst Recerca St Joan de Deu, Inborn Errors Metab Unit, Barcelona, Spain

 CIBERER ISCIII, Barcelona, Spain

Honzik, T:
 Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic

 Gen Univ Hosp Prague, Prague, Czech Republic

Pons, R:
 Univ Athens, Aghia Sofia Hosp, Dept Pediat 1, Athens, Greece

Regal, L:
 UZ Brussel, Pediat Neurol & Metab Unit, Dept Pediat, Brussels, Belgium

Goez, H:
 Univ Alberta, Glenrose Rehabil Hosp, Dept Pediat, Edmonton, AB, Canada

Artuch, R:
 CIBERER, Inst Recerca St Joan de Deu, Clin Biochem Dept, Barcelona, Spain

 MetabERN Hosp St Joan de Deu, Barcelona, Spain

Hoffmann, GF:
 Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany

Horvath, G:
 Univ British Columbia, BC Childrens Hosp, Div Biochem Genet, Dept Pediat, Vancouver, BC, Canada

Thony, B:
 Univ Childrens Hosp Zurich, Div Metab, Zurich, Switzerland

Scholl-Burgi, S:
 Med Univ Innsbruck, Clin Pediat 1, Anichstr 35, Innsbruck, Austria

Burlina, A:
 Azienda Osped Univ Padova, Dipartimento Salute Donna & Bambino, UOC Malattie Metab Ereditarie, Campus Biomedico Pietro dAbano, Padua, Italy

Verbeek, MM:
 Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Dept Neurol & Lab Med,Alzheimer Ctr, Nijmegen, Netherlands

Friedman, J:
 Univ Calif San Diego, Dept Neurosci, Rady Childrens Hosp, Div Neurol,Rady Childrens Inst Genom Med, San Diego, CA USA

 Univ Calif San Diego, Dept Pediat, Rady Childrens Hosp, Div Neurol,Rady Childrens Inst Genom Med, San Diego, CA USA

Jeltsch, K:
 Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany

Hubschmann, OK:
 Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany