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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Autor: Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-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, Garcia-Cazorla A, Opladen T, Harting I, International Working Group on Neurotransmitter Related Disorders

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia

RM; Trastornos hereditarios de neurotransmisores; Monoaminas; Deficiencia de tetrahidrobiopterina RM; Trastorns dels neurotransmissors heretats; Monoamines; Deficiència de tetrahidrobiopterina MRI; Inherited neurotransmitter disorders; Monoamines; T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b877cab74f11584455ed19abfed64f8
https://pubmed.ncbi.nlm.nih.gov/33443316

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Autor: Kuseyri Hübschmann, O. Horvath, G. Cortès-Saladelafont, E. Yıldız, Y. Mastrangelo, M. Pons, R. Friedman, J. Mercimek-Andrews, S. Wong, S.-N. Pearson, T.S. Zafeiriou, D.I. Kulhánek, J. Kurian, M.A. López-Laso, E. Oppebøen, M. Kılavuz, S. Wassenberg, T. Goez, H. Scholl-Bürgi, S. Porta, F. Honzík, T. Santer, R. Burlina, A. Sivri, H.S. Leuzzi, V. Hoffmann, G.F. Jeltsch, K. Hübschmann, D. Garbade, S.F. Assmann, B. Fung, C.-W. Guder, P. Hong, S.T.K. Karall, D. Kato, M. Kavecan, I. Koht, J.A. Kuster, A. Lücke, T. Manti, F. Mir, P. Mühlhausen, C. Önenli Mungan, H.N. Palacios, N.A.J. Ramos, J.A.F. Steel, D. Stevanović, G. Sykut-Cegielska, J. Verbeek, M.M. García-Cazorla, A. Opladen, T. iNTD Registry Study Group

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::be43f98c5cd85161ef6cf9af75f8240d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3025514

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Autor: Pearson, T.S. Gilbert, L. Opladen, T. Garcia-Cazorla, A. Mastrangelo, M. Leuzzi, V. Tay, S.K.H. Sykut-Cegielska, J. Pons, R. Mercimek-Andrews, S. Kato, M. Lücke, T. Oppebøen, M. Kurian, M.A. Steel, D. Manti, F. Meeks, K.D. Jeltsch, K. Flint, L.

Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::e6f0720eaf22a50b7b6f0be4bb57306b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3077671

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