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TITLE: Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier
AUTHORS: Aida Ormazabal; Angels G Garcia Cazorla; Belen P Perez Duenas; Merce Pineda; Angeles Ruiz; Eduardo L Lopez Laso; Maite G Garcia Silva; Ines Carilho; Clara Barbot ; Bru Cormand; Marta Ribases; Lisbeth Moller; Emilio F Fernandez Alvarez; Jaume Campistol; Rafael Artuch;
PUBLISHED: 2006, SOURCE: MEDICINA CLINICA, VOLUME: 127, ISSUE: 3

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TITLE: A molecular classification of Joubert syndrome
AUTHORS: Valente, EM; Marsh, SE; Louis, CM; Silhavey, J; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C ; Woods, CG; Boltshauser, E; Al Tawari, AA; Salpietro, CD; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, JG; La Jolla, CA; ...More
PUBLISHED: 2005, SOURCE: 34th Annual Meeting of the Child-Neurology-Society in ANNALS OF NEUROLOGY, VOLUME: 58

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TITLE: Cyclic vomiting/glutaric aciduria type II - Case report [Vómitos cíclicos/acidúria glutárica tipo II - Caso clínico]
AUTHORS: Sarmento, A; Cardoso, ML; Teixeira, F; Barbot, C ; Martins, E ;
PUBLISHED: 2005, SOURCE: Nascer e Crescer, VOLUME: 14, ISSUE: 1

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TITLE: Distinguishing the four genetic causes of Jouberts syndrome - Related disorders. (vol 57, pg 513, 2005) Full Text
AUTHORS: Valente, EM; Marsh, SE; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C ; Woods, CG; Boltshauser, E; Al Tawari, AA; Salpietro, CD; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, JG;
PUBLISHED: 2005, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 57, ISSUE: 6

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TITLE: Distinguishing the four genetic causes of Jouberts syndrome-related disorders Full Text
AUTHORS: Valente, EM; Marsh, SE; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C ; Woods, CG; Boltshauser, E; Al Tawari, AA; Salpietro, CD; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, JG;
PUBLISHED: 2005, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 57, ISSUE: 4

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