Format
Sort by
Items per page

Send to

Choose Destination

Best matches for glycogen storage disease:

Pregnancy in women with glycogen storage disease Ia and Ib. Ferrecchia IA et al. J Perinat Neonatal Nurs. (2014)

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

Mouse model of glycogen storage disease type III. Liu KM et al. Mol Genet Metab. (2014)

Search results

Items: 1 to 20 of 6605

1.

Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease.

Keeler AM, Zieger M, Todeasa S, Mccall A, Gifford J, Bircsak S, Choudhury SR, Byrne BJ, Sena-Esteves M, ElMallah MK.

Hum Gene Ther. 2018 Jun 14. doi: 10.1089/hum.2018.016. [Epub ahead of print]

PMID:
29901418
2.

Glycogen at the Crossroad of Stress Resistance, Energy Maintenance, and Pathophysiology of Aging.

Gusarov I, Nudler E.

Bioessays. 2018 Jun 13:e1800033. doi: 10.1002/bies.201800033. [Epub ahead of print] Review.

PMID:
29897131
3.

Glucocorticoid-dependent REDD1 expression reduces muscle metabolism to enable adaptation under energetic stress.

Britto FA, Cortade F, Belloum Y, Blaquière M, Gallot YS, Docquier A, Pagano AF, Jublanc E, Bendridi N, Koechlin-Ramonatxo C, Chabi B, Francaux M, Casas F, Freyssenet D, Rieusset J, Giorgetti-Peraldi S, Carnac G, Ollendorff V, Favier FB.

BMC Biol. 2018 Jun 12;16(1):65. doi: 10.1186/s12915-018-0525-4.

4.

Lysosomal Targeting Enhancement by Conjugation of Glycopeptides Containing Mannose-6-phosphate Glycans Derived from Glyco-engineered Yeast.

Kang JY, Shin KK, Kim HH, Min JK, Ji ES, Kim JY, Kwon O, Oh DB.

Sci Rep. 2018 Jun 7;8(1):8730. doi: 10.1038/s41598-018-26913-4.

5.

Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia.

Gjorgjieva M, Monteillet L, Calderaro J, Mithieux G, Rajas F.

J Inherit Metab Dis. 2018 Jun 4. doi: 10.1007/s10545-018-0207-y. [Epub ahead of print]

PMID:
29869165
6.

[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].

Mantilla C, Toro M, Sepúlveda ME, Insuasty M, Di Filippo D, López JÁ, Baquero C, Navas MC, Arias AA.

Biomedica. 2018 May 1;38(0):30-42. doi: 10.7705/biomedica.v38i0.3454. Spanish.

PMID:
29809327
7.

Therapeutic Benefit of Autophagy Modulation in Pompe Disease.

Lim JA, Sun B, Puertollano R, Raben N.

Mol Ther. 2018 May 3. pii: S1525-0016(18)30203-X. doi: 10.1016/j.ymthe.2018.04.025. [Epub ahead of print]

PMID:
29804932
8.

Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.

Lee YM, Conlon TJ, Specht A, Coleman KE, Brown LM, Estrella AM, Dambska M, Dahlberg KR, Weinstein DA.

J Inherit Metab Dis. 2018 May 25. doi: 10.1007/s10545-018-0199-7. [Epub ahead of print]

PMID:
29802554
9.

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S.

J Clin Neuromuscul Dis. 2018 Jun;19(4):203-210. doi: 10.1097/CND.0000000000000212.

PMID:
29794575
10.

Pulmonary Hypertension in Glycogen Storage Disease Type II.

Li HP, Xie WM, Huang X, Lu X, Zhai ZG, Zhan QY, Wang C.

Chin Med J (Engl). 2018 Jun 5;131(11):1375-1376. doi: 10.4103/0366-6999.232792. No abstract available.

11.

Metabolic Myopathies and the Respiratory System.

Koo P, Sethi JM.

Clin Chest Med. 2018 Jun;39(2):401-410. doi: 10.1016/j.ccm.2018.02.001. Review.

PMID:
29779598
12.

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.

Vittonatto E, Boschi S, CHIADò-Piat L, Ponzalino V, Bortolani S, Brusa C, Rainero I, Ricci F, Vercelli L, Mongini T.

Acta Myol. 2017 Dec 1;36(4):191-198. eCollection 2017 Dec.

13.

Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease.

Düzenli Kar Y, Özdemir ZC, Kiral E, Kiliç Yildirim G, Dinleyici EÇ, Bör Ö.

J Pediatr Hematol Oncol. 2018 May 10. doi: 10.1097/MPH.0000000000001208. [Epub ahead of print]

PMID:
29750741
14.

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.

Moravej H, Amirhakimi A, Showraki A, Amoozgar H, Hadipour Z, Nikfar G.

Iran J Med Sci. 2018 Mar;43(2):218-222.

15.

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.

Cho JH, Kim GY, Mansfield BC, Chou JY.

J Inherit Metab Dis. 2018 May 8. doi: 10.1007/s10545-018-0192-1. [Epub ahead of print]

PMID:
29740774
16.

Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.

van der Wal E, Herrero-Hernandez P, Wan R, Broeders M, In 't Groen SLM, van Gestel TJM, van IJcken WFJ, Cheung TH, van der Ploeg AT, Schaaf GJ, Pijnappel WWMP.

Stem Cell Reports. 2018 Jun 5;10(6):1975-1990. doi: 10.1016/j.stemcr.2018.04.002. Epub 2018 May 3.

17.

Effect of cryopreservation on the appearance and liver function of hepatocyte-like cells in cultures of cirrhotic liver of biliary atresia.

Yamazaki T, Enosawa S, Tokiwa T.

In Vitro Cell Dev Biol Anim. 2018 Jun;54(6):401-405. doi: 10.1007/s11626-018-0260-8. Epub 2018 May 4.

PMID:
29728912
18.

The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.

Cappello AR, Curcio R, Lappano R, Maggiolini M, Dolce V.

Front Chem. 2018 Apr 17;6:122. doi: 10.3389/fchem.2018.00122. eCollection 2018. Review.

19.

Glycogenic hepatopathy.

Khoury J, Zohar Y, Shehadeh N, Saadi T.

Hepatobiliary Pancreat Dis Int. 2018 Apr;17(2):113-118. doi: 10.1016/j.hbpd.2018.02.006. Epub 2018 Feb 19.

PMID:
29709217
20.

The 6th Rare Disease South Eastern Europe (See) Meeting, Skopje, Macedonia (November 11th, 2017).

Gucev Z, Tasic V, Polenakovic M.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017 Dec 1;38(3):163-168. doi: 10.2478/prilozi-2018-0018.

PMID:
29668480

Supplemental Content

Loading ...
Support Center