Sperandeo MP - Search Results

1

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G. Sebastio G, et al. Among authors: sperandeo mp. Am J Hum Genet. 1995 Jun;56(6):1324-33. Am J Hum Genet. 1995. PMID: 7762555 Free PMC article.

2

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

Sperandeo MP, Panico M, Pepe A, Candito M, de Franchis R, Kraus JP, Andria G, Sebastio G. Sperandeo MP, et al. J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769. J Inherit Metab Dis. 1995. PMID: 7564249 No abstract available.

3

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

Sperandeo MP, Candito M, Sebastio G, Rolland MO, Turc-Carel C, Giudicelli H, Dellamonica P, Andria G. Sperandeo MP, et al. J Inherit Metab Dis. 1996;19(3):351-6. doi: 10.1007/BF01799266. J Inherit Metab Dis. 1996. PMID: 8803779

4

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

Sperandeo MP, de Franchis R, Andria G, Sebastio G. Sperandeo MP, et al. Am J Hum Genet. 1996 Dec;59(6):1391-3. Am J Hum Genet. 1996. PMID: 8940285 Free PMC article. No abstract available.

5

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G. De Franchis R, et al. Among authors: sperandeo mp. Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. doi: 10.1007/pl00014309. Eur J Pediatr. 1998. PMID: 9587029 Review.

6

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Among authors: sperandeo mp. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.

7

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Sperandeo MP, et al. Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700. Am J Hum Genet. 2000. PMID: 10631139 Free PMC article.

8

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G. Sperandeo MP, et al. Hum Mutat. 2005 Apr;25(4):410. doi: 10.1002/humu.9323. Hum Mutat. 2005. PMID: 15776427

9

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP, Andria G, Sebastio G. Sperandeo MP, et al. Hum Mutat. 2008 Jan;29(1):14-21. doi: 10.1002/humu.20589. Hum Mutat. 2008. PMID: 17764084 Review.

10

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Sebastio G, Sperandeo MP, Andria G. Sebastio G, et al. Among authors: sperandeo mp. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):54-62. doi: 10.1002/ajmg.c.30287. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308987 Review.

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