Warning: The NCBI web site requires JavaScript to function. more...

PubMed

US National Library of Medicine National Institutes of Health

RSS
RSS Settings
- Search: ("GAA gene"[TIAB]) AND english[la] AND human[mh] AND "last 360...
- Number of items displayed:
- Feed name:
Save search
Advanced
Help

We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

<< First< Prev

Page of 2

Next >Last >>

Results: 1 to 20 of 32

Select item 231315681.

A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.

Chamkha I, Alila-Fersi O, Mkaouar-Rebai E, Aloulou H, Kifagi C, Hachicha M, Fakhfakh F.

Biochem Biophys Res Commun. 2012 Dec 7;429(1-2):31-8. doi: 10.1016/j.bbrc.2012.10.105. Epub 2012 Nov 3.

PMID:: 23131568; [PubMed - indexed for MEDLINE]

Related citations

Select item 226766512.

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.

PMID:: 22676651; [PubMed - indexed for MEDLINE]

Free PMC Article

Related citations

Select item 226445863.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium.

Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29.

PMID:: 22644586; [PubMed - indexed for MEDLINE]

Related citations

Select item 225952004.

Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency.

Jones LK Jr, Liewluck T, Gavrilova RH.

Neuromuscul Disord. 2012 Aug;22(8):763-6. doi: 10.1016/j.nmd.2012.02.003. Epub 2012 May 16.

PMID:: 22595200; [PubMed - indexed for MEDLINE]

Related citations

Select item 222532585.

The genotype-phenotype correlation in Pompe disease.

Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160(1):59-68. doi: 10.1002/ajmg.c.31318. Epub 2012 Jan 17. Review.

PMID:: 22253258; [PubMed - indexed for MEDLINE]

Related citations

Select item 222529236.

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.

PMID:: 22252923; [PubMed - indexed for MEDLINE]

Free PMC Article

Related citations

Select item 219260847.

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.

Huang HP, Chen PH, Hwu WL, Chuang CY, Chien YH, Stone L, Chien CL, Li LT, Chiang SC, Chen HF, Ho HN, Chen CH, Kuo HC.

Hum Mol Genet. 2011 Dec 15;20(24):4851-64. doi: 10.1093/hmg/ddr424. Epub 2011 Sep 15.

PMID:: 21926084; [PubMed - indexed for MEDLINE]

Free Article

Related citations

Select item 217573828.

Rapid progressive course of later-onset Pompe disease in Chinese patients.

Yang CC, Chien YH, Lee NC, Chiang SC, Lin SP, Kuo YT, Chen SS, Jong YJ, Hwu WL.

Mol Genet Metab. 2011 Nov;104(3):284-8. doi: 10.1016/j.ymgme.2011.06.010. Epub 2011 Jun 22.

PMID:: 21757382; [PubMed - indexed for MEDLINE]

Related citations

Select item 214848259.

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.

Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933.

PMID:: 21484825; [PubMed - indexed for MEDLINE]

Related citations

Select item 2123544210.

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.

Parenti G, Andria G.

Curr Pharm Biotechnol. 2011 Jun;12(6):902-15. doi: 1389-2010/11 $58.00+.00.

PMID:: 21235442; [PubMed - indexed for MEDLINE]

Related citations

Select item 2110926611.

Late form of Pompe disease with glycogen storage in peripheral nerves axons.

Fidziańska A, Ługowska A, Tylki-Szymańska A.

J Neurol Sci. 2011 Feb 15;301(1-2):59-62. doi: 10.1016/j.jns.2010.10.031. Epub 2010 Nov 25.

PMID:: 21109266; [PubMed - indexed for MEDLINE]

Related citations

Select item 2103922512.

p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V.

Genet Test Mol Biomarkers. 2010 Dec;14(6):835-7. doi: 10.1089/gtmb.2010.0038. Epub 2010 Nov 1. Erratum in: Genet Test Mol Biomarkers. 2011 May;15(5):369.

PMID:: 21039225; [PubMed - indexed for MEDLINE]

Related citations

Select item 2088235213.

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Rohrbach M, Klein A, Köhli-Wiesner A, Veraguth D, Scheer I, Balmer C, Lauener R, Baumgartner MR.

J Inherit Metab Dis. 2010 Dec;33(6):751-7. doi: 10.1007/s10545-010-9209-0. Epub 2010 Sep 30.

PMID:: 20882352; [PubMed - indexed for MEDLINE]

Related citations

Select item 2046428414.

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.

Grzesiuk AK, Shinjo SM, da Silva R, Machado M, Galera MF, Marie SK.

Arq Neuropsiquiatr. 2010 Apr;68(2):194-7.

PMID:: 20464284; [PubMed - indexed for MEDLINE]

Free Article

Related citations

Select item 1958808115.

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; [PubMed - indexed for MEDLINE]

Related citations

Select item 1953364716.

Diagnostic criteria for late-onset (childhood and adult) Pompe disease.

American Association of Neuromuscular & Electrodiagnostic Medicine.

Muscle Nerve. 2009 Jul;40(1):149-60. doi: 10.1002/mus.21393.

PMID:: 19533647; [PubMed - indexed for MEDLINE]

Related citations

Select item 1947235317.

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.

Korpela MP, Paetau A, Löfberg MI, Timonen MH, Lamminen AE, Kiuru-Enari SM.

Muscle Nerve. 2009 Jul;40(1):143-8. doi: 10.1002/mus.21291.

PMID:: 19472353; [PubMed - indexed for MEDLINE]

Related citations

Select item 1906723118.

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; [PubMed - indexed for MEDLINE]

Related citations

Select item 1860776819.

Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S261-5. doi: 10.1007/s10545-008-0820-2. Epub 2008 Jul 10.

PMID:: 18607768; [PubMed - indexed for MEDLINE]

Related citations

Select item 1828553620.

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

Nascimbeni AC, Fanin M, Tasca E, Angelini C.

Neurology. 2008 Feb 19;70(8):617-26. doi: 10.1212/01.wnl.0000299892.81127.8e.

PMID:: 18285536; [PubMed - indexed for MEDLINE]

Related citations

<< First< Prev

Page of 2

Next >Last >>

Supplemental Content

Filters: Manage Filters

3 free full-text articles in PubMed Central

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. [Orphanet J Rare Dis. 2012]
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, et al. Orphanet J Rare Dis. 2012 Jun 7; 7:35. Epub 2012 Jun 7.
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. [Am J Med Genet C Semin Med Gen...]
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Am J Med Genet C Semin Med Genet. 2012 Feb 15; 160(1):40-9. Epub 2012 Jan 17.
Molecular genetics of late onset glycogen storage disease II in Italy. [Acta Myol. 2007]
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG, Filocamo M. Acta Myol. 2007 Jul; 26(1):67-71.

See all (3)...

Find related data

Search details

Recent activity

Clear Turn Off Turn On

("GAA gene"[TIAB]) AND english[la] AND human[mh] AND "last 3600 d... (32)
("GAA gene"[TIAB]) AND english[la] AND human[mh] AND "last 3600 days"[dp]
Search

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

You are here: NCBI > Literature > PubMed

Write to the Help Desk

PubMed

Result Filters

Additional filters

Article types

Text availability

Publication dates

Custom date range

Species

Display Settings:

Send to:

Results: 1 to 20 of 32

Display Settings:

Send to:

Supplemental Content

3 free full-text articles in PubMed Central

Find related data

Search details

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information