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1 . Academic Journal
Animal and cell models for Lesch-Nyhan syndrome
저자
by
Micheli, Vanna
;
Jacomelli, Gabriella
;
Santucci, Annalisa
;
Bernardini, Giulia
.
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Drug Discovery Today: Disease Models
Summer 2020 31:45-57
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6 . Academic Journal
Inborn Errors of Purine Salvage and Catabolism.
저자
by
Camici, Marcella
;
Garcia-Gil, Mercedes
;
Allegrini, Simone
;
Pesi, Rossana
;
Bernardini, Giulia
, et al.
소스
Metabolites (2218-1989); Jul2023, Vol. 13 Issue 7, p787, 47p
Web of Science
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7 . Academic Journal
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome
저자
by
Micheli, Vanna
;
Sestini, Sylvia
;
Parri, Veronica
;
Fichera, Marco
;
Romano, Corrado
, et al.
소스
In
Clinica Chimica Acta
September 2007 384(1-2):35-40
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7 . Academic Journal
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch–Nyhan disease)
저자
by
Bertelli, Matteo
;
Cecchin, Stefano
;
Lapucci, Cristina
;
Jacomelli, Gabriella
;
Jinnah, Hyder A.
, et al.
소스
In
Clinica Chimica Acta
2006 373(1):104-107
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7 . Academic Journal
Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase
저자
by
Micheli, Vanna
;
Gathof, Birgit S
;
Rocchigiani, Marina
;
Jacomelli, Gabriella
;
Sestini, Silvia
, et al.
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In
BBA - Molecular Basis of Disease
2002 1587(1):45-52
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7 . Academic Journal
Simple non-radiochemical HPLC-linked method for screening for purine metabolism disorders using dried blood spot
저자
by
Jacomelli, Gabriella
;
Micheli, Vanna
;
Peruzzi, Luana
;
Notarantonio, Laura
;
Cerboni, Barbara
, et al.
소스
In
Clinica Chimica Acta
2002 324(1):135-139
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7 . Academic Journal
Thiol Disulfide Exchange Modulates the Activity of Aldose Reductase in Intact Bovine Lens as a Response to Oxidative Stress
저자
by
Cappiello, Mario
;
Vilardo, Pier Giuseppe
;
Micheli, Vanna
;
Jacomelli, Gabriella
;
Banditelli, Stefania
, et al.
소스
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Experimental Eye Research
June 2000 70(6):795-803
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7 . Academic Journal
Description of the Lesch‐Nyhan neurobehavioral disorder and its management through participant observation of three young individuals.
저자
by
Bozano, Anna
;
Schiaffino, Alessandra
;
Spessa, Alessandra
;
Valeriani, Francesca
;
Mancinelli, Raimondo
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Mar2020, Vol. 52 Issue 1, p63-71, 9p
Open Access (Wiley)
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7 . Academic Journal
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity
저자
by
Massa, Roberto
;
Tessa, Alessandra
;
Margollicci, Maria
;
Micheli, Vanna
;
Romigi, Andrea
, et al.
소스
In
Neuromuscular Disorders
2009 19(12):837-840
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7 . Academic Journal
Inhibiting PNP for the therapy of hyperuricemia in Lesch–Nyhan disease: Preliminary in vitro studies with analogues of immucillin‐G.
저자
by
Jacomelli, Gabriella
;
Baldini, Eva
;
Mugnaini, Claudia
;
Micheli, Vanna
;
Bernardini, Giulia
, et al.
소스
Journal of Inherited Metabolic Disease; Jan2019, Vol. 42 Issue 1, p178-185, 8p
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