Morrone A - Search Results

1

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

Bacci GM, Donati MA, Pasquini E, Munier F, Cavicchi C, Morrone A, Sodi A, Murro V, Garcia Segarra N, Defilippi C, Bussolin L, Caputo R. Bacci GM, et al. Among authors: morrone a. Acta Ophthalmol. 2017 Dec;95(8):e776-e782. doi: 10.1111/aos.13441. Epub 2017 May 8. Acta Ophthalmol. 2017. PMID: 28481040 Free 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: morrone a. 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. 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: morrone a. 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: morrone a. 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: morrone a. 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. 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: morrone a. 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: morrone a. 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: morrone a. Muscle Nerve. 2003 Feb;27(2):165-9. doi: 10.1002/mus.10298. Muscle Nerve. 2003. PMID: 12548523

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