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Collezione AOU Città della Salute di Torino

  

Items : 29

2025
AOU Città della Salute di Torino

Groeneweg S; van Geest FS; Martín M; Dias M; Frazer J; Medina-Gomez C; Sterenborg RBTM; Wang H; Dolcetta-Capuzzo A; de Rooij LJ; Teumer A; Abaci A; van den Akker ELT; Ambegaonkar GP; Armour CM; Bacos I; Bakhtiani P; Barca D; Bauer AJ; van den Berg SAA; van den Berge A; Bertini E; van Beynum IM; Brunetti-Pierri N; Brunner D; Cappa M; Cappuccio G; Castellotti B; Castiglioni C; et alii...

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;

Phase II Study of Allogeneic Hematopoietic Stem Cell Transplantation for Children with High-Risk Neuroblastoma Using a Reduced-Intensity Conditioning Regimen: Results from the AIEOP Trial. in Transplantation and cellular therapy / Transplant Cell Ther. 2024 May;30(5):530.e1-530.e8. doi: 10.1016/j.jtct.2024.03.002. Epub 2024 Mar 7
2024
AOU Città della Salute di Torino

Pagliara D; Leardini D; Lo Nigro L; Mura RM; Parasole R; Rabusin M; Cesaro S; Luksch R; Porta F; Casazza G; Zecca M; Favre C; Rondelli R; Calore E; Faraci M; Biffi A; Saglio F; Prete A; Lanino E; Locatelli F; Fagioli F;

Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency. in Nature medicine / Nat Med. 2024 Feb;30(2):488-497. doi: 10.1038/s41591-023-02789-4. Epub 2024 Feb 14.
2024
AOU Città della Salute di Torino

Karakas Z; Rabusin M; Tommasini A; Stepensky P; Speckmann C; Pasquet M; Porta F; Notarangelo LD; Meyts I; Montin D; Meinhardt A; Ladogana S; Cancrini C; Finocchi A; AbdElaziz D; Baumann U; Pituch-Noworolska A; Carlucci F; Cesana D; Levi M; Zancan S; Corti A; Casiraghi M; Darin S; Silvani P; Monti I; Garella V; Ferri C; Priolo A; et alii...

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus. in Behavioural neurology / Behav Neurol. 2024 Apr 9;2024:1023861. doi: 10.1155/2024/1023861. eCollection 2024.
2024
AOU Città della Salute di Torino

Spada M; Striano P; Riva A; Cantalupo G; Bordugo A; Bellini M; Cordelli DM; Pession A; Battini R; Manti F; Spagnoli C; Porta F; Fusco C;

A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU. in Clinical nutrition (Edinburgh, Scotland) / Clin Nutr. 2023 May;42(5):732-763. doi: 10.1016/j.clnu.2023.03.007. Epub 2023 Mar 21.
2023
AOU Città della Salute di Torino

Tartara A; Razza C; Pirola M; Peroni G; Patelli Z; Mazzola G; Mansueto F; Cavioni A; Barrile GC; Gasparri C; Porta F; Rondanelli M; Perna S;

Restless legs syndrome in DNAJC12 deficiency. in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2023 Jun;44(6):2167-2172. doi: 10.1007/s10072-023-06733-9. Epub 2023 Mar 10.
2023
AOU Città della Salute di Torino

Spada M; Neirotti A; Porta F;

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2022 Feb 2;17(1):33. doi: 10.1186/s13023-022-02179-y.
2022
AOU Alessandria
AOU Città della Salute di Torino

Porta F; Manganaro M; Deaglio S; Vaisitti T; Amoroso A; Nozza P; Barreca A; Bracciamà V; Brezzi B; Kalantari S; Spada M;

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. in The Journal of clinical endocrinology and metabolism / J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750.
2022
AOU Città della Salute di Torino

van Geest FS; Groeneweg S; van den Akker ELT; Bacos I; Barca D; van den Berg SAA; Bertini E; Brunner D; Brunetti-Pierri N; Cappa M; Cappuccio G; Chatterjee K; Chesover AD; Christian P; Coutant R; Craiu D; Crock P; Dewey C; Dica A; Dimitri P; Dubey R; Enderli A; Fairchild J; Gallichan J; Garibaldi LR; George B; Hackenberg A; Heinrich B; Huynh T; et alii...

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H(2)S homeostasis. in Redox biology / Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18.
2022
AOU Città della Salute di Torino

Porta F; Santer R; Martinelli D; Laugwitz L; Kuster A; Ješina P; Honzík T; Haack TB; García-Cazorla Á; Dionisi-Vici C; Gasperini S; Sykut-Cegielska J; Blessing H; Barvíková K; Clayton P; Mills P; Stib?rková B; Vaculíková-Fantlová T; Khalil Y; K?ížek T; Ditroi T; Krijt J; K?ížková M; Sokolová J; Kožich V; Schwahn BC; Schwarz G; Nagy P;

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience. in International journal of neonatal screening / Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047.
2022
AOU Città della Salute di Torino

Ruoppolo M; Malvagia S; Boenzi S; Carducci C; Dionisi-Vici C; Teofoli F; Burlina A; Angeloni A; Aronica T; Bordugo A; Bucci I; Camilot M; Carbone MT; Cardinali R; Carducci C; Cassanello M; Castana C; Cazzorla C; Ciatti R; Ferrari S; Frisso G; Funghini S; Furlan F; Gasperini S; Gragnaniello V; Guzzetti C; La Marca G; La Spina L; Lorè T; 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...

Childhood cancer in Italy: background, goals, and achievements of the Italian Paediatric Hematology Oncology Association (AIEOP). in Tumori / Tumori. 2021 Oct;107(5):370-375. doi: 10.1177/03008916211007934. Epub 2021 Apr 20.
2021
AOU Città della Salute di Torino

Pession A; Biffi A; Locatelli F; Porta F; Massimino M; Biondi A; Favre C; Prete A; Rostagno E; Buldini B; Balduzzi A; Rabusin M; Quarello P; Zecca M; Ferrari A; Fagioli F;

CDKL5 deficiency disorder in males: Five new variants and review of the literature. in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society / Eur J Paediatr Neurol. 2021 Jul;33:9-20. doi: 10.1016/j.ejpn.2021.04.007. Epub 2021 Apr 30.
2021
AOU Città della Salute di Torino

Niceta M; Solazzi R; Galati G; Fontana E; Porta F; Mei D; Gana S; Darra F; Freri E; Varesio C; Siri B; Veggiotti P; Alfei E;

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible? in Journal of inherited metabolic disease / J Inherit Metab Dis. 2021 Jul;44(4):916-925. doi: 10.1002/jimd.12368. Epub 2021 Feb 25.
2021
AOU Città della Salute di Torino

Furlan F; Sajeva A; Rodella G; Spada M; Bordugo A; Porta F; Klein J; Matysiak U; Weinhold N; Wagner C; Grünert SC; Tucci S; Menni F; Spiekerkoetter U;

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature. in Journal of pediatric endocrinology & metabolism : JPEM / J Pediatr Endocrinol Metab. 2020 Nov 19;34(2):261-266. doi: 10.1515/jpem-2020-0139. Print 2021 Feb 2
2021
AOU Città della Salute di Torino

Sciortino P; Nika L; Ricci F; Chiesa N; Siri B; Porta F; Spada M;

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...

Neonatal phenylalanine wash-out in phenylketonuria. in Metabolic brain disease / Metab Brain Dis. 2020 Oct;35(7):1225-1229. doi: 10.1007/s11011-020-00602-6. Epub 2020 Jul 13.
2020
AOU Città della Salute di Torino

Porta F; Ponzone A; Spada M; Porta F; Ponzone A; Spada M;

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...

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. in The lancet. Diabetes & endocrinology / Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4.
2020
AOU Città della Salute di Torino

Groeneweg S; van Geest FS; Abac? A; Alcantud A; Ambegaonkar GP; Armour CM; Bakhtiani P; Barca D; Bertini ES; van Beynum IM; Brunetti-Pierri N; Bugiani M; Cappa M; Cappuccio G; Castellotti B; Castiglioni C; Chatterjee K; de Coo IFM; Coutant R; Craiu D; Crock P; DeGoede C; Demir K; Dica A; Dimitri P; Dolcetta-Capuzzo A; Dremmen MHG; Dubey R; Enderli A; et alii...

Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study. in Stem cell reviews and reports / Stem Cell Rev Rep. 2020 Feb;16(1):186-197. doi: 10.1007/s12015-019-09925-z.
2020
AOU Città della Salute di Torino

Spada M; Porta F; Righi D; Gazzera C; Tandoi F; Ferrero I; Fagioli F; Sanchez MBH; Calvo PL; Biamino E; Bruno S; Gunetti M; Contursi C; Lauritano C; Conio A; Amoroso A; Salizzoni M; Silengo L; Camussi G; Romagnoli R;

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...

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome. in The Journal of allergy and clinical immunology / J Allergy Clin Immunol. 2019 May;143(5):1952-1956.e6. doi: 10.1016/j.jaci.2018.12.1013. Epub 2019 Ja
2019
AOU Città della Salute di Torino

Bucciol G; Nicholas SK; Calvo PL; Cant A; Edgar JDM; Español T; Ferrua F; Galicchio M; Gennery AR; Hadzic N; Hanson IC; Kusminsky G; Lange A; Lanternier F; Mahlaoui N; Moshous D; Nademi Z; Neven B; Oleastro M; Porta F; Quarello P; Silva M; Slatter MA; Soncini E; Stefanowicz M; Tandoi F; Teisseyre M; Torgerson TR; Veys P; et alii...

Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. in Journal of pediatric gastroenterology and nutrition / J Pediatr Gastroenterol Nutr. 2019 Aug;69(2):160-162. doi: 10.1097/MPG.0000000000002354.
2019
AOU Città della Salute di Torino

Porta F; Romagnoli R; Busso M; Tandoi F; Spada M;

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism. in Nephrology (Carlton, Vic.) / Nephrology (Carlton). 2018 Oct;23(10):957-961. doi: 10.1111/nep.13409.
2018
AOU Città della Salute di Torino

Porta F; Peruzzi L; Bonaudo R; Pieretti S; Busso M; Cocchi E; Conio A; Pagliardini V; Spada M; Porta F; Peruzzi L; Bonaudo R; Pieretti S; Busso M; Cocchi E; Conio A; Pagliardini V; Spada M;

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. in Molecular genetics and metabolism / Mol Genet Metab. 2018 Jul;124(3):210-215. doi: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2.
2018
AOU Città della Salute di Torino

Spada M; Iacovelli F; Ciminelli BM; Capo C; Leo S; Porta F; Puccinelli MP; Vesco S; Vittorini R; Biamino E; Menduti G; Falconi M; Malaspina P; Rossi L; Menduti G; Biamino E; Vittorini R; Vesco S; Puccinelli MP; Porta F; Capo C; Leo S; Ciminelli BM; Iacovelli F; Spada M; Falconi M; Malaspina P; Rossi L;

2018
AOU Città della Salute di Torino

Sturiale L; Garozzo D; Lefeber DJ; Cefalù AB; Reggiani S; Cisarò F; Porta F; Pinon M; Rabbone I; Spada M; Calvo PL; Jaeken J;

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. in American journal of human genetics / Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.
2016
AOU Città della Salute di Torino

Jansen JC; Timal S; van Scherpenzeel M; Michelakakis H; Vicogne D; Ashikov A; Moraitou M; Hoischen A; Huijben K; Steenbergen G; van den Boogert MA; Porta F; Calvo PL; Mavrikou M; Cenacchi G; van den Bogaart G; Salomon J; Holleboom AG; Rodenburg RJ; Drenth JP; Huynen MA; Wevers RA; Morava E; Foulquier F; Veltman JA; Lefeber DJ;