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Best matches for glycogen storage disease:

Glycogen storage disease type III diagnosis and management guidelines. Kishnani PS et al. Genet Med. (2010)

Hepatic glycogen storage disorders: what have we learned in recent years? Burda P et al. Curr Opin Clin Nutr Metab Care. (2015)

Preclinical Development of New Therapy for Glycogen Storage Diseases. Sun B et al. Curr Gene Ther. (2015)

Search results

Items: 1 to 20 of 6757

1.

Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis.

Satoh A, Hirashio S, Arima T, Yamada Y, Irifuku T, Ishibashi H, Motoda A, Sueda Y, Masaki T.

CEN Case Rep. 2019 Mar 21. doi: 10.1007/s13730-019-00392-6. [Epub ahead of print]

2.

Characterization of high- and low-risk hepatocellular adenomas by magnetic resonance in an animal model of glycogen storage disease type 1A.

Resaz R, Rosa F, Grillo F, Basso L, Segalerba D, Puglisi A, Bosco MC, Mastracci L, Neumaier CE, Varesio L, Eva A.

Dis Model Mech. 2019 Mar 21. pii: dmm.038026. doi: 10.1242/dmm.038026. [Epub ahead of print]

3.

Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.

Karthi S, Manimaran P, Varalakshmi P, Ganesh R, Kapoor S, Goyal M, Ashokkumar B.

Gene. 2019 Mar 16;700:7-16. doi: 10.1016/j.gene.2019.03.029. [Epub ahead of print]

PMID:
30890478
4.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Adv Ther. 2019 Mar 16. doi: 10.1007/s12325-019-00926-5. [Epub ahead of print]

PMID:
30879255
5.

Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia.

Kang HR, Waskowicz L, Seifts AM, Landau DJ, Young SP, Koeberl DD.

Mol Ther Methods Clin Dev. 2019 Feb 10;13:265-273. doi: 10.1016/j.omtm.2019.02.002. eCollection 2019 Jun 14.

6.

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.

Kaiser N, Gautschi M, Bosanska L, Meienberg F, Baumgartner MR, Spinas GA, Hochuli M.

Mol Genet Metab. 2019 Feb 28. pii: S1096-7192(19)30036-8. doi: 10.1016/j.ymgme.2019.02.008. [Epub ahead of print]

PMID:
30846352
7.

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.

Lim JA, Yi H, Gao F, Raben N, Kishnani PS, Sun B.

Mol Ther Methods Clin Dev. 2019 Jan 25;12:233-245. doi: 10.1016/j.omtm.2019.01.006. eCollection 2019 Mar 15.

8.

Acute pancreatitis in a patient with glycogen storage disease type 1a.

Hirashima K, Kido J, Matsumoto S, Nakamura K.

Pediatr Neonatol. 2019 Jan 29. pii: S1875-9572(18)30538-2. doi: 10.1016/j.pedneo.2019.01.009. [Epub ahead of print] No abstract available.

9.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.

10.

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.

Amiñoso C, Gordillo-Marañón M, Hernández J, Solera J.

Neuromuscul Disord. 2019 Mar;29(3):187-191. doi: 10.1016/j.nmd.2018.12.003. Epub 2018 Dec 15.

PMID:
30770309
11.

Glycogen metabolism and glycogen storage disorders.

Kanungo S, Wells K, Tribett T, El-Gharbawy A.

Ann Transl Med. 2018 Dec;6(24):474. doi: 10.21037/atm.2018.10.59. Review.

12.

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.

Tian WT, Luan XH, Zhou HY, Zhang C, Huang XJ, Liu XL, Chen SD, Tang HD, Cao L.

Neuromuscul Disord. 2019 Jan 6. pii: S0960-8966(18)31011-3. doi: 10.1016/j.nmd.2019.01.001. [Epub ahead of print]

PMID:
30737079
13.

Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery.

Kaserman JE, Wilson AA.

Chronic Obstr Pulm Dis. 2018 Sep 15;5(4):258-266. doi: 10.15326/jcopdf.5.4.2017.0179.

14.

A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.

Zhou N, Cui J, Zhao W, Jiang Y, Zhu W, Tang L, Li X, Sun M, Pan C, Shu X.

Mol Genet Genomic Med. 2019 Mar;7(3):e561. doi: 10.1002/mgg3.561. Epub 2019 Feb 3.

15.

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.

Zhang L, Cho JH, Arnaoutova I, Mansfield BC, Chou JY.

J Inherit Metab Dis. 2019 Feb 3. doi: 10.1002/jimd.12069. [Epub ahead of print]

PMID:
30714174
16.

Triacylglycerols: Fuelling the Hibernating Mycobacterium tuberculosis.

Maurya RK, Bharti S, Krishnan MY.

Front Cell Infect Microbiol. 2019 Jan 9;8:450. doi: 10.3389/fcimb.2018.00450. eCollection 2018. Review.

17.

Understanding Human Physiological Limitations and Societal Pressures in Favor of Overeating Helps to Avoid Obesity.

Borer KT.

Nutrients. 2019 Jan 22;11(2). pii: E227. doi: 10.3390/nu11020227. Review.

18.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.

Genet Med. 2019 Jan 19. doi: 10.1038/s41436-018-0364-2. [Epub ahead of print]

PMID:
30659246
19.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS.

Mol Genet Metab. 2019 Feb;126(2):106-116. doi: 10.1016/j.ymgme.2018.08.009. Epub 2018 Aug 23.

PMID:
30655185
20.

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A.

Int J Mol Sci. 2019 Jan 15;20(2). pii: E327. doi: 10.3390/ijms20020327. Review.

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