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Page 1
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8.
Orphanet J Rare Dis. 2020.
PMID: 32456656
Free PMC article.
Review.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD).
Opladen T, et al.
Mol Genet Metab Rep. 2016 Oct 20;9:61-66. doi: 10.1016/j.ymgmr.2016.09.006. eCollection 2016 Dec.
Mol Genet Metab Rep. 2016.
PMID: 27830117
Free PMC article.
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Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW.
Keller M, et al.
J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2.
J Inherit Metab Dis. 2021.
PMID: 34245036
Free article.
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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T; International Working Group on Neurotransmitter Related Disorders (iNTD); Harting I.
Kuseyri Hübschmann O, et al.
J Inherit Metab Dis. 2021 Jul;44(4):1070-1082. doi: 10.1002/jimd.12360. Epub 2021 Jan 28.
J Inherit Metab Dis. 2021.
PMID: 33443316
Free article.
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Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD).
Opladen T, et al.
Orphanet J Rare Dis. 2020 Aug 5;15(1):202. doi: 10.1186/s13023-020-01464-y.
Orphanet J Rare Dis. 2020.
PMID: 32758270
Free PMC article.
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