Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

Autor: Tristán-Noguero, A. Borràs, E. Molero-Luis, M. Wassenberg, T. Peters, T. Verbeek, M.M. Willemsen, M. Opladen, T. Jeltsch, K. Pons, R. Thony, B. Horvath, G. Yapici, Z. Friedman, J. Hyland, K. Agosta, G.E. López-Laso, E. Artuch, R. Sabidó, E. García-Cazorla, À.

Background: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::a983e5f6051fc9fb74c68435e9c286c3
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997218

Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)

Autor: Opladen, T. López-Laso, E. Cortès-Saladelafont, E. Pearson, T.S. Sivri, H.S. Yildiz, Y. Assmann, B. Kurian, M.A. Leuzzi, V. Heales, S. Pope, S. Porta, F. García-Cazorla, A. Honzík, T. Pons, R. Regal, L. Goez, H. Artuch, R. Hoffmann, G.F. Horvath, G. Thöny, B. Scholl-Bürgi, S. Burlina, A. Verbeek, M.M. Mastrangelo, M. Friedman, J. Wassenberg, T. Jeltsch, K. Kulhánek, J. Kuseyri Hübschmann, O.

Following the original article's publication [1] the authors asked for the correction of Fig. 2, since the names of the disease genes [GCH1 and PCBD1] in the figure published did not match the listed diseases [AR-GTPCHD and PCDD]. The correct Fig. 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::65cb235187ad3a100c9de2bf4c8d30a7
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3104041

Effects of carrying a pathogenic variant in the tyrosine hydroxylase gene on motivated action and valuation: A pilot study in family members with tyrosine hydroxylase deficiency

Autor: Swart, J.C., Froböse, M.I., Wassenberg, T., Ouden, H.E.M. den, Willemsen, M.A.A.P., Cools, R.

Publikováno v: Donders Series ; 359, 23-43. [S.l.] : [S.n.]
STARTPAGE=23;ENDPAGE=43;TITLE=Donders Series ; 359
To go or not to go? On motivational biases in decision making, pp. 23-43

Contains fulltext : 218327.pdf (Publisher’s version ) (Open Access) Catecholamines (particularly dopamine) have long been implicated in motivation, learning and behavioural activation. Benign variants in dopamine-regulating genes have widely been l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::12b7e374f1649feddc266e9f2a925ae6
http://hdl.handle.net/2066/218327

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Autor: Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c621a435308e48be39bfe8392c56796a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10700

Diet and feeding behaviour of juvenile and adult banana prawns Penaeus merguiensis in the Gulf of Carpentaria, Australia

Autor: Wassenberg, T. J., Hill, B. J.

Publikováno v: Marine Ecology Progress Series, 1993 Apr . 94(3), 287-295.

Externí odkaz: https://www.jstor.org/stable/24832714