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Results: 1 to 20 of 104

Similar articles for PubMed (Select 23391190)

1.

Hypertransaminasemia and fatal lung disease: a case report.

Santamaria F, De Stefano S, Montella S, Maglione M, Della Casa R, Acampora E, Pignata C, Salerno M, Parenti G.

Ital J Pediatr. 2013 Feb 7;39:9. doi: 10.1186/1824-7288-39-9.

2.
3.

Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.

Katzin LW, Amato AA.

J Clin Neuromuscul Dis. 2008 Jun;9(4):421-31. doi: 10.1097/CND.0b013e318176dbe4. Review.

PMID:
18525427
4.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

5.

[Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].

Zhang HB, Zhang WM, Qiu JJ, Meng Y, Qiu ZQ.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):415-9. Chinese.

PMID:
22931935
6.

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

Raben N, Plotz P, Byrne BJ.

Curr Mol Med. 2002 Mar;2(2):145-66. Review.

PMID:
11949932
7.

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.

Neurology. 2007 Jan 9;68(2):110-5.

PMID:
17210890
8.

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

Hamdan MA, Almalik MH, Mirghani HM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S431-6. doi: 10.1007/s10545-008-1000-0. Epub 2008 Dec 12.

PMID:
19067231
9.

Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.

Aykut A, Onay H, Kose M, Erbas Canda E, Karaca E, Coker M, Ozkinay F.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1265-7. doi: 10.1515/jpem-2014-0107.

PMID:
25026126
10.

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium.

Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745.

PMID:
18425781
11.

[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].

Liu Q, Zhao J, Wang ZX, Zhang W, Yuan Y.

Zhonghua Yi Xue Za Zhi. 2013 Jul 2;93(25):1981-5. Chinese.

PMID:
24169249
12.

[Respiratory distress in infants with Pompe's disease].

Khémiri M, Zayani M, Bou Yahya O, Zouari S, Ben Mansour F, Caillaud C, Khaldi F, Barsaoui S.

Tunis Med. 2008 Jun;86(6):612-4. French. No abstract available.

PMID:
19216463
13.
14.

A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.

Dou W, Peng C, Zheng J, Gu X, Fu L, Martiniuk F, Sheng HZ.

Clin Chim Acta. 2006 Dec;374(1-2):145-6. Epub 2006 Jun 19. No abstract available.

PMID:
16782080
15.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R.

Neuromuscul Disord. 2002 Feb;12(2):159-66. Erratum in: Neuromuscul Disord. 2003 Jun;13(5):427.

PMID:
11738358
16.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

Amiñoso C, Vallespin E, Fernández L, Arrabal LF, Desviat LR, Pérez B, Santos F, Solera J.

Gene. 2013 Apr 25;519(1):169-72. doi: 10.1016/j.gene.2013.01.051. Epub 2013 Feb 9.

PMID:
23402890
17.

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E.

Hum Mol Genet. 2010 Feb 15;19(4):684-96. doi: 10.1093/hmg/ddp535. Epub 2009 Dec 3.

18.

[Molecular pathology and gene diagnosis of muscle glycogenosis].

Suzuki Y.

Nihon Rinsho. 1997 Dec;55(12):3302-6. Review. Japanese.

PMID:
9436455
19.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK.

J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y. Epub 2009 Jul 9.

PMID:
19588081
20.

Glycogenosis type II (acid maltase deficiency).

Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT.

Muscle Nerve Suppl. 1995;3:S61-9. Review.

PMID:
7603530
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