Search Results - "Zammarchi, E"

Functional studies of new GLA gene mutations leading to conformational fabry disease by Filoni, C., Caciotti, A., Carraresi, L., Cavicchi, C., Parini, R., Antuzzi, D., Zampetti, A., Feriozzi, S., Poisetti, P., Garman, S.C., Guerrini, R., Zammarchi, E., Donati, M.A., Morrone, A.

“…Fabry Disease (FD) is an X-linked multisystemic lysosomal disorder caused by mutations of α-galactosidase ( GLA) gene. Only a few of the 450 genetic lesions…”
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Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests by la Marca, G., Malvagia, S., Casetta, B., Pasquini, E., Donati, M. A., Zammarchi, E.

“…Summary We report on our 6-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all…”
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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients by Caciotti, A., Di Rocco, M., Filocamo, M., Grossi, S., Traverso, F., d’Azzo, A., Cavicchi, C., Messeri, A., Guerrini, R., Zammarchi, E., Donati, M. A., Morrone, Amelia

“…Sialidosis is a lysosomal storage disease caused by the deficiency of alpha- N -acetyl neuraminidase-1 (NEU1). Sialidosis is classified into two main clinical…”
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Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency by Cavicchi, C., Malvagia, S., la Marca, G., Gasperini, S., Donati, M.A., Zammarchi, E., Guerrini, R., Morrone, A., Pasquini, E.

“…In an expanded newborn screening program for inborn errors of metabolism by LC–MS/MS in Tuscany, six newborns out of 169,000 showed decreased blood citrulline…”
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MELAS: clinical features, biochemistry, and molecular genetics by Ciafaloni, E, Ricci, E, Shanske, S, Moraes, C T, Silvestri, G, Hirano, M, Simonetti, S, Angelini, C, Donati, M A, Garcia, C

“…We studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), 25 oligosymptomatic or…”
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Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers by Morrone, A, Cavicchi, C, Bardelli, T, Antuzzi, D, Parini, R, Di Rocco, M, Feriozzi, S, Gabrielli, O, Barone, R, Pistone, G, Spisni, C, Ricci, R, Zammarchi, E

“…The diagnosis of Fabry disease in male patients can be easily made through enzymatic GLA assay in plasma, leucocytes, or cultured fibroblasts but it is very…”
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Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS by la Marca, G., Malvagia, S., Casetta, B., Pasquini, E., Pela, I., Hirano, M., Donati, M. A., Zammarchi, E.

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility,…”
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GALNS gene expression profiling in Morquio A patients' fibroblasts by Carraresi, L., Parini, R., Filoni, C., Caciotti, A., Sersale, G., Tomatsu, S., Orlando, C., Zammarchi, E., Guerrini, R., Donati, M.A., Morrone, A.

“…Quantification studies of mutated mRNAs have not been carried out on Morquio A patients. Such studies are very important for the determination of stability of…”
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Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 by Malvagia, S., Papi, L., Morrone, A., Donati, M. A., Ciani, F., Pasquini, E., La Marca, G., Scholte, H. R., Genuardi, M., Zammarchi, E.

“…Summary Malonic aciduria is a rare autosomal recessive disorder caused by deficiency of malonyl‐CoA decarboxylase, encoded by the MLYCD gene. We report on a…”
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Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings by Rossi, Andrea, Cerone, Roberto, Biancheri, Roberta, Gatti, Rosanna, Schiaffino, Maria Cristina, Fonda, Claudio, Zammarchi, Enrico, Tortori-Donati, Paolo

“…Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and…”
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Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions by Funghini, S., Donati, M.A., Pasquini, E., Zammarchi, E., Morrone, A.

“…Carbamyl Phosphate Synthetase I deficiency (CPSID) is a rare autosomal recessive urea cycle disorder usually characterized by potentially lethal neonatal…”
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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis by Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.

“…GM1‐gangliosidosis is a lysosomal storage disorder caused by a deficiency of β‐galactosidase. It is mainly characterized by progressive neurodegeneration and…”
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β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement by Morrone, A., Bardelli, T., Donati, M.A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E.

“…GM1‐gangliosidosis is a lysosomal storage disorder caused by deficiency of acid β‐galactosidase (GLB1). We report five new β‐galactosidase gene mutations in…”
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Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems by Leuzzi, R, Fulceri, R, Marcolongo, P, Bánhegyi, G, Zammarchi, E, Stafford, K, Burchell, A, Benedetti, A

“…In liver endoplasmic reticulum the intralumenal glucose-6-phosphatase activity requires the operation of a glucose 6-phosphate transporter (G6PT1). Mutations…”
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Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene by Bisanzi, S, Morrone, A, Donati, M.A, Pasquini, E, Spada, M, Strisciuglio, P, Parenti, G, Parini, R, Papadia, F, Zammarchi, E

“…Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder due to a defect of the mithocondrial enzyme ornithine transcarbamylase (OTC)…”
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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis by Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.

“…The original article to which this Erratum refers was published in Human Mutation 24:352Human Mutation(2004) 24(4) 352 In the original published version of…”
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Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia by Bardelli, T, Donati, M A, Gasperini, S, Ciani, F, Belli, F, Blau, N, Morrone, A, Zammarchi, E

“…Hyperphenylalaninemia (HPA), due to a deficiency of phenylalanine hydroxylase (PAH) enzyme, is caused by mutations in the PAH gene. Molecular analysis in 23…”
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Mutational spectrum in ten Italian patients affected by methylmalonyl‐CoA mutase deficiency by Cavicchi, C., Donati, M. A., Pasquini, E., Poggi, G. M., Dionisi‐Vici, C., Parini, R., Zammarchi, E., Morrone, A.

“…Summary We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X,…”
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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile by Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A

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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile by Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A

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