Zobrazeno 1 - 10
of 388
pro vyhledávání: '"E. Zammarchi"'
Autor:
R, Leuzzi, R, Fulceri, P, Marcolongo, G, Bánhegyi, E, Zammarchi, K, Stafford, A, Burchell, A, Benedetti
Publikováno v:
Biochemical Journal. 357:557-562
In liver endoplasmic reticulum the intralumenal glucose-6-phosphatase activity requires the operation of a glucose 6-phosphate transporter (G6PT1). Mutations in the gene encoding G6PT1 cause glycogen storage disease type 1b, which is characterized by
Autor:
Gabriella Jacomelli, S. Sestini, Vanna Micheli, E. Zammarchi, F. Manzoni, Birgit S. Gathof, L. Peruzzi, G. Pompucci, Marina Rocchigiani
Publikováno v:
Life Sciences. 64:2479-2487
Purine and pyridine metabolism were studied in ten Lesch-Nyhan patients, with virtually no hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity in erythrocytes. Increased NAD erythrocyte concentrations were found in all patients. Raised act
Autor:
C, Cavicchi, M A, Donati, S, Funghini, G, la Marca, S, Malvagia, F, Ciani, G M, Poggi, E, Pasquini, E, Zammarchi, A, Morrone
Publikováno v:
Clinical genetics. 69(1)
Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643GA (p.Gly215Ser) mutation. Both chorionic villus and amnio
Autor:
A, Drousiotou, T, Georgiou, Y, Campos, A, Caciotti, L, Sztriha, A, Gururaj, P, Ozand, E, Zammarchi, A, Morrone, A, d Azzo
Publikováno v:
Human genetics. 116(6)
Autor:
A, Morrone, T, Bardelli, M A, Donati, M, Giorgi, M, Di Rocco, R, Gatti, R, Parini, R, Ricci, G, Taddeucci, A, D'Azzo, E, Zammarchi
Publikováno v:
Human mutation. 15(4)
GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase (GLB1). We report five new beta-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families. Six of th
Publikováno v:
Advances in experimental medicine and biology. 431
Autor:
B. Gathof, Gabriella Jacomelli, F. Manzoni, G. Hayek, Marina Rocchigiani, G. Pompucci, S. Sestini, Francesco Cardona, E. Zammarchi, Micheli
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461374565
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21be96813a0a258f6f37b7563b7c17f1
https://doi.org/10.1007/978-1-4615-5381-6_35
https://doi.org/10.1007/978-1-4615-5381-6_35
Autor:
A, Morrone, E, Zammarchi, P C, Scacheri, M A, Donati, R C, Hoop, S, Servidei, G, Galluzzi, E P, Hoffman
Publikováno v:
American journal of medical genetics. 69(3)
A 4-year-old girl was referred for evaluation for a mild but persistent serum aspartate aminotransferase (AST) elevation detected incidentally during routine blood screening for a skin infection. Serum creatine kinase activity was found to be increas
Publikováno v:
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 19(2)
Hyperglycinemia is a non rarely observed biochemical finding which can be caused by a primary defect of the glycine cleavage system (nonketotic hyperglycinemia) or by an enzymatic block due to toxic metabolites (ketotic hyperglycinemia in organic aci
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome
We report on a neonate with hyperammonemic coma in whom hyperormthinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14 C-ornithine on cultured f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c07f6f10ba8e427227ce7ad2418d0193
http://hdl.handle.net/11365/30268
http://hdl.handle.net/11365/30268