Concolino D - Search Results

1

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.

Scala I, Concolino D, Della Casa R, Nastasi A, Ungaro C, Paladino S, Capaldo B, Ruoppolo M, Daniele A, Bonapace G, Strisciuglio P, Parenti G, Andria G. Scala I, et al. Among authors: concolino d. Orphanet J Rare Dis. 2015 Feb 8;10:14. doi: 10.1186/s13023-015-0227-8. Orphanet J Rare Dis. 2015. PMID: 25757997 Free PMC article. Clinical Trial.

2

7p22.2 Microduplication: A Pathogenic CNV?

Bauleo A, Montesanto A, Pace V, Guarasci F, Apa R, Brando R, De Stefano L, Sestito S, Concolino D, Falcone E. Bauleo A, et al. Among authors: concolino d. Genes (Basel). 2023 Jun 19;14(6):1292. doi: 10.3390/genes14061292. Genes (Basel). 2023. PMID: 37372471 Free PMC article.

3

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.

Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Among authors: concolino d. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619

4

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.

5

Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria.

Strisciuglio P, Concolino D, Moricca MT, Rivalta L, Parlato G. Strisciuglio P, et al. Among authors: concolino d. Eur J Pediatr. 1995 Oct;154(10):866. doi: 10.1007/BF01959802. Eur J Pediatr. 1995. PMID: 8529692 No abstract available.

6

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

7

Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.

Staiano A, Salerno M, Di Maio S, Marsullo G, Marino A, Concolino D, Strisciuglio P. Staiano A, et al. Among authors: concolino d. Arch Dis Child. 1996 Nov;75(5):440-3. doi: 10.1136/adc.75.5.440. Arch Dis Child. 1996. PMID: 8957960 Free PMC article.

8

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G. Guzzetta V, et al. Among authors: concolino d. J Inherit Metab Dis. 1997 Sep;20(5):619-24. doi: 10.1023/a:1005315106604. J Inherit Metab Dis. 1997. PMID: 9323556

9

Centric fission of chromosome 9 in a boy with trisomy 9p.

Concolino D, Cinti R, Moricca M, Andria G, Strisciuglio P. Concolino D, et al. Am J Med Genet. 1998 Aug 27;79(1):35-7. doi: 10.1002/(sici)1096-8628(19980827)79:1<35::aid-ajmg9>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9738866

10

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

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