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Items: 9

1.

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.

Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N.

Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20.

PMID:
23690520
2.

Clinical manifestations and management of four children with Pearson syndrome.

Tumino M, Meli C, Farruggia P, La Spina M, Faraci M, Castana C, Di Raimondo V, Alfano M, Pittalà A, Lo Nigro L, Russo G, Di Cataldo A.

Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 Oct 19.

PMID:
22012855
3.

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS.

Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.

PMID:
20020533
4.

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R.

Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):228-9. doi: 10.1016/j.ejogrb.2009.11.014. Epub 2009 Dec 14. No abstract available.

PMID:
20005624
5.

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca P, Ragalmuto A, Chiavetta V, Micciche S, Romano V.

Exp Mol Med. 2010 Feb 28;42(2):81-6. doi: 10.3858/emm.2010.42.2.009.

6.

Pharmacokinetics of sapropterin in patients with phenylketonuria.

Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E; Sapropterin Research Group.

Clin Pharmacokinet. 2008;47(12):817-25. doi: 10.2165/0003088-200847120-00006.

PMID:
19026037
7.

Autism and phenylketonuria.

Baieli S, Pavone L, Meli C, Fiumara A, Coleman M.

J Autism Dev Disord. 2003 Apr;33(2):201-4.

PMID:
12757360
8.

Dietary control of phenylketonuria.

Meli C, Bianca S.

Lancet. 2002 Dec 21-28;360(9350):2075-6. No abstract available.

PMID:
12504428
9.

Hyperphenylalaninemia and birth weight.

Bianca S, Meli C, Barrano B, Mollica F.

Ann Genet. 2002 Jul-Sep;45(3):105-7.

PMID:
12381438

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