PubMed

Recommendations on diagnosis, treatment, and monitoring for Gaucher disease.

Martins AM, Valadares ER, Porta G, Coelho J, Semionato Filho J, Pianovski MA, Kerstenetzky MS, Montoril Mde F, Aranda PC, Pires RF, Mota RM, Bortolheiro TC; Brazilian Study Group on Gaucher Disease and other Lysosomal Storage Diseases.

J Pediatr. 2009 Oct;155(4 Suppl):S10-8. Review. No abstract available. PMID: 19765407 [PubMed - indexed for MEDLINE]Related articles

Metabolic epilepsies: approaches to a diagnostic challenge.

Stöckler-Ipsiroglu S, Plecko B.

Can J Neurol Sci. 2009 Aug;36 Suppl 2:S67-72. Review.PMID: 19760908 [PubMed - indexed for MEDLINE]Related articles

Current enzyme replacement therapy for the treatment of lysosomal storage diseases.

Lim-Melia ER, Kronn DF.

Pediatr Ann. 2009 Aug;38(8):448-55. Review. No abstract available. PMID: 19725195 [PubMed - indexed for MEDLINE]Related articles

Genetic screening for low-penetrance variants in protein-coding genes.

Waalen J, Beutler E.

Annu Rev Genomics Hum Genet. 2009;10:431-50. Review.PMID: 19715441 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease: a model disorder for biomarker discovery.

Boot RG, van Breemen MJ, Wegdam W, Sprenger RR, de Jong S, Speijer D, Hollak CE, van Dussen L, Hoefsloot HC, Smilde AK, de Koster CG, Vissers JP, Aerts JM.

Expert Rev Proteomics. 2009 Aug;6(4):411-9. Review.PMID: 19681676 [PubMed - indexed for MEDLINE]Related articles

Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.

Kraoua I, Stirnemann J, Ribeiro MJ, Rouaud T, Verin M, Annic A, Rose C, Defebvre L, Réménieras L, Schüpbach M, Belmatoug N, Vidailhet M, Sedel F.

Mov Disord. 2009 Jul 30;24(10):1524-30. Review.PMID: 19513999 [PubMed - indexed for MEDLINE]Related articles

The autosomal recessively inherited progressive myoclonus epilepsies and their genes.

Ramachandran N, Girard JM, Turnbull J, Minassian BA.

Epilepsia. 2009 May;50 Suppl 5:29-36. Review.PMID: 19469843 [PubMed - indexed for MEDLINE]Related articles

Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences.

Rubboli G, Gardella E, Capovilla G.

Epilepsia. 2009 May;50 Suppl 5:24-8. Review.PMID: 19469842 [PubMed - indexed for MEDLINE]Related articles

The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS.

Am J Med Genet A. 2009 Jun;149A(6):1334-45. Review.PMID: 19444897 [PubMed - indexed for MEDLINE]Related articles

Alternative indications for bisphosphonate therapy.

Landesberg R, Eisig S, Fennoy I, Siris E.

J Oral Maxillofac Surg. 2009 May;67(5 Suppl):27-34. Review.PMID: 19371812 [PubMed - indexed for MEDLINE]Related articles

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH.

Genet Med. 2009 Jun;11(6):425-33.PMID: 19346952 [PubMed - indexed for MEDLINE]Related articles

Lysosomal storage disorders in the newborn.

Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E.

Pediatrics. 2009 Apr;123(4):1191-207. Review.PMID: 19336380 [PubMed - indexed for MEDLINE]Related articlesFree article

Osteonecrosis and antiphospholipid syndrome.

Rueda JC, Duque MA, Mantilla RD, Iglesias-Gamarra A.

J Clin Rheumatol. 2009 Apr;15(3):130-2. Review.PMID: 19300287 [PubMed - indexed for MEDLINE]Related articles

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW.

Brain. 2009 Jul;132(Pt 7):1783-94. Epub 2009 Mar 13.PMID: 19286695 [PubMed - indexed for MEDLINE]Related articles

A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation.

Aviezer D, Brill-Almon E, Shaaltiel Y, Hashmueli S, Bartfeld D, Mizrachi S, Liberman Y, Freeman A, Zimran A, Galun E.

PLoS One. 2009;4(3):e4792. Epub 2009 Mar 11.PMID: 19277123 [PubMed - indexed for MEDLINE]Related articlesFree article

Enzyme replacement therapy for mild patients with Gaucher disease.

Zimran A, Ilan Y, Elstein D.

Am J Hematol. 2009 Apr;84(4):202-4. No abstract available. PMID: 19229987 [PubMed - indexed for MEDLINE]Related articles

Goal-oriented therapy with miglustat in Gaucher disease.

Pastores GM, Giraldo P, Chérin P, Mehta A.

Curr Med Res Opin. 2009 Jan;25(1):23-37. Review.PMID: 19210136 [PubMed - indexed for MEDLINE]Related articles

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.

Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, Puga AC, Lemay RM, Weinreb NJ.

Mol Genet Metab. 2009 Apr;96(4):164-70. Epub 2009 Feb 4.PMID: 19195916 [PubMed - indexed for MEDLINE]Related articles

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko W, Timmons M, Ries M, Vellodi A.

Ann Neurol. 2008 Nov;64(5):514-22.PMID: 19067373 [PubMed - indexed for MEDLINE]Related articlesFree article

Review: behaviour of endothelial cells faced with hypoxia.

Paternotte E, Gaucher C, Labrude P, Stoltz JF, Menu P.

Biomed Mater Eng. 2008;18(4-5):295-9. Review.PMID: 19065037 [PubMed - indexed for MEDLINE]Related articles