Donati MA - Search Results

1

Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. Cavicchi C, et al. Among authors: donati ma. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.

2

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A. Zammarchi E, et al. Among authors: donati ma. Am J Med Genet. 1996 Aug 23;64(3):453-8. doi: 10.1002/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8862621

3

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. Morrone A, et al. Among authors: donati ma. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10737981

4

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.

Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E. Giorgi M, et al. Among authors: donati ma. Hum Mutat. 2000 Apr;15(4):380-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU12>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10737985

5

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

Funghini S, Pasquini E, Cappellini M, Donati MA, Morrone A, Fonda C, Zammarchi E. Funghini S, et al. Among authors: donati ma. Mol Genet Metab. 2001 Jul;73(3):268-75. doi: 10.1006/mgme.2001.3191. Mol Genet Metab. 2001. PMID: 11461194

6

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: donati ma. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

7

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E. Morrone A, et al. Among authors: donati ma. Am J Med Genet. 2002 Jul 22;111(1):10-8. doi: 10.1002/ajmg.10532. Am J Med Genet. 2002. PMID: 12124727

8

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Funghini S, Donati MA, Pasquini E, Gasperini S, Ciani F, Morrone A, Zammarchi E. Funghini S, et al. Among authors: donati ma. J Inherit Metab Dis. 2002 Aug;25(4):328-30. doi: 10.1023/a:1016522912849. J Inherit Metab Dis. 2002. PMID: 12227467

9

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

Bardelli T, Donati MA, Gasperini S, Ciani F, Belli F, Blau N, Morrone A, Zammarchi E. Bardelli T, et al. Among authors: donati ma. Mol Genet Metab. 2002 Nov;77(3):260-6. doi: 10.1016/s1096-7192(02)00166-x. Mol Genet Metab. 2002. PMID: 12409276

10

Severe prognosis in a large family with hypokalemic periodic paralysis.

Caciotti A, Morrone A, Domenici R, Donati MA, Zammarchi E. Caciotti A, et al. Among authors: donati ma. Muscle Nerve. 2003 Feb;27(2):165-9. doi: 10.1002/mus.10298. Muscle Nerve. 2003. PMID: 12548523

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

254 results

Search Page

Filters