Concolino D - Search Results

1

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M. Parini R, et al. Among authors: concolino d. J Hepatol. 2009 Jan;50(1):215-21. doi: 10.1016/j.jhep.2008.08.019. Epub 2008 Oct 31. J Hepatol. 2009. PMID: 19012992 Free article.

2

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia.

Risoleo MC, Siciliano M, Vetri L, Bitetti I, Di Sessa A, Carotenuto M, Annunziata F, Concolino D, Marotta R. Risoleo MC, et al. Among authors: concolino d. Children (Basel). 2022 Oct 31;9(11):1679. doi: 10.3390/children9111679. Children (Basel). 2022. PMID: 36360407 Free PMC article.

3

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G. Sperli D, et al. Among authors: concolino d. J Med Genet. 1993 Oct;30(10):877-9. doi: 10.1136/jmg.30.10.877. J Med Genet. 1993. PMID: 8230168 Free PMC article.

4

A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.

Concolino D, Sperlì D, Cinti R, Strisciuglio P, Andria G. Concolino D, et al. Clin Genet. 1996 May;49(5):274-6. doi: 10.1111/j.1399-0004.1996.tb03787.x. Clin Genet. 1996. PMID: 8832138

5

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

Concolino D, Formicola S, Camera G, Strisciuglio P. Concolino D, et al. Am J Med Genet. 2000 May 29;92(3):191-4. Am J Med Genet. 2000. PMID: 10817653

6

Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.

Cuda G, Mussari A, Concolino D, Costanzo FS, Strisciuglio P. Cuda G, et al. Among authors: concolino d. Hum Mutat. 2002 Mar;19(3):309-10. doi: 10.1002/humu.9019. Hum Mutat. 2002. PMID: 11857753

7

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Beesley CE, Concolino D, Filocamo M, Winchester BG, Strisciuglio P. Beesley CE, et al. Among authors: concolino d. Mol Genet Metab. 2007 Jan;90(1):77-80. doi: 10.1016/j.ymgme.2006.07.014. Epub 2006 Sep 20. Mol Genet Metab. 2007. PMID: 16990043

8

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Concolino D, Muzzi G, Rapsomaniki M, Moricca MT, Pascale MG, Strisciuglio P. Concolino D, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S193-7. doi: 10.1007/s10545-007-0788-3. Epub 2008 Apr 15. J Inherit Metab Dis. 2008. PMID: 18425437

9

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A. Parini R, et al. Among authors: concolino d. Clin Genet. 2008 Sep;74(3):260-6. doi: 10.1111/j.1399-0004.2008.01012.x. Epub 2008 Apr 24. Clin Genet. 2008. PMID: 18445046

10

Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.

Concolino D, Muzzi G, Pisaturo L, Piccirillo A, Di Natale P, Strisciuglio P. Concolino D, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):466-71. doi: 10.1016/j.ejmg.2008.05.002. Epub 2008 May 23. Eur J Med Genet. 2008. PMID: 18586597

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