Sfoglia per AUTORE
LEUZZI V
Collezione AOU Città della Salute di Torino

  

Items : 7

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism. in Journal of inherited metabolic disease / J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24.
2024
AOU Città della Salute di Torino

Hübschmann D; Gökçay G; Leuzzi V; Jeltsch K; Hoffmann GF; García-Cazorla A; de Paula LCP; Medeiros LS; Oppebøen M; Wong SN; Dy-Hollins ME; Balc? MC; Kavecan I; Porta F; Palacios NAJ; López-Laso E; Pons R; Schwartz IVD; Manti F; Karaca M; Akgöz Karaosmano?lu A; Kuseyri Hübschmann O; Y?ld?z Y; Harting I; Özön ZA; Sivri S; Opladen T;

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.
2022
AOU Città della Salute di Torino

Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; et alii...

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. in Nature communications / Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5.
2021
AOU Città della Salute di Torino

Kuseyri Hübschmann O; Horvath G; Cortès-Saladelafont E; Y?ld?z Y; Mastrangelo M; Pons R; Friedman J; Mercimek-Andrews S; Wong SN; Pearson TS; Zafeiriou DI; Kulhánek J; Kurian MA; López-Laso E; Oppebøen M; K?lavuz S; Wassenberg T; Goez H; Scholl-Bürgi S; Porta F; Honzík T; Santer R; Burlina A; Sivri HS; Leuzzi V; Hoffmann GF; Jeltsch K; Hübschmann D; Garbade SF; et alii...

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. in Molecular genetics and metabolism / Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24.
2020
AOU Città della Salute di Torino

Manti F; Nardecchia F; Banderali G; Burlina A; Carducci C; Carducci C; Donati MA; Gueraldi D; Paci S; Pochiero F; Porta F; Ortolano R; Rovelli V; Schiaffino MC; Spada M; Blau N; Leuzzi V; Manti F; Nardecchia F; Banderali G; Burlina A; Carducci C; Carducci C; Donati MA; Gueraldi D; Paci S; Pochiero F; Porta F; Ortolano R; et alii...

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8.
2020
AOU Città della Salute di Torino

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; et alii...

The Genetic Landscape and Epidemiology of Phenylketonuria. in American journal of human genetics / Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.
2020
AOU Città della Salute di Torino

Hillert A; Anikster Y; Belanger-Quintana A; Burlina A; Burton BK; Carducci C; Chiesa AE; Christodoulou J; ?or?evi? M; Desviat LR; Eliyahu A; Evers RAF; Fajkusova L; Feillet F; Bonfim-Freitas PE; Gi?ewska M; Gundorova P; Karall D; Kneller K; Kutsev SI; Leuzzi V; Levy HL; Lichter-Konecki U; Muntau AC; Namour F; Oltarzewski M; Paras A; Perez B; Polak E; et alii...

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 Aug 5;15(1):202. doi: 10.1186/s13023-020-01464-y.
2020
AOU Città della Salute di Torino

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; et alii...