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Items: 1 to 20 of 37

1.

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.

Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14. Review. Erratum in: Br J Radiol. 2014 Mar;87(1035):20149002.

2.

New insights in the field of muscle glycogenoses.

Oldfors A, DiMauro S.

Curr Opin Neurol. 2013 Oct;26(5):544-53. doi: 10.1097/WCO.0b013e328364dbdc. Review.

PMID:
23995275
3.

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.

Escobar LF, Wagner S, Tucker M, Wareham J.

J Perinatol. 2012 Oct;32(10):810-3. doi: 10.1038/jp.2011.178. Review.

PMID:
23014386
4.

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ.

Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Review.

PMID:
22305237
5.

[Metabolic myopathies--part I: disorders of the carbohydrate metabolism].

Finsterer J.

Fortschr Neurol Psychiatr. 2011 Oct;79(10):598-605; quiz 606. doi: 10.1055/s-0031-1281721. Epub 2011 Oct 11. Review. German. No abstract available.

PMID:
21989512
6.

Liver transplantation for inherited metabolic disorders of the liver.

Moini M, Mistry P, Schilsky ML.

Curr Opin Organ Transplant. 2010 Jun;15(3):269-76. doi: 10.1097/MOT.0b013e3283399dbd. Review.

PMID:
20489626
7.

[How does the landscape change in lysosomal storage disease].

Parini R.

Pediatr Med Chir. 2007 Sep-Oct;29(5):275-8. Review. Italian. No abstract available.

PMID:
18402399
8.

[Natural history of hepatic glycogen storage diseases].

Labrune P, Eberschweiler PT, Boudjemline AM, Hubert-Buron A, Petit F, Gajdos V.

Presse Med. 2008 Jul-Aug;37(7-8):1172-7. doi: 10.1016/j.lpm.2007.09.023. Epub 2008 Feb 29. Review. French.

PMID:
18313893
9.

Primary periodic paralyses.

Finsterer J.

Acta Neurol Scand. 2008 Mar;117(3):145-58. Epub 2007 Nov 20. Review.

PMID:
18031562
10.

[Anderson disease/chylomicron retention disease].

Miyahara A, Sugie H.

Nihon Rinsho. 2007 Jul 28;65 Suppl 7:597-9. Review. Japanese. No abstract available.

PMID:
17824094
11.

Glycogen storage diseases: new perspectives.

Ozen H.

World J Gastroenterol. 2007 May 14;13(18):2541-53. Review.

12.

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.

Shin YS.

Semin Pediatr Neurol. 2006 Jun;13(2):115-20. Review.

PMID:
17027861
13.

Congenital form of glycogen storage disease type IV: a case report and a review of the literature.

Maruyama K, Suzuki T, Koizumi T, Sugie H, Fukuda T, Ito M, Hirato J.

Pediatr Int. 2004 Aug;46(4):474-7. Review. No abstract available.

PMID:
15310318
14.

Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.

Ricardo Pérez Riera A, Ferreira C, Dubner SJ, Schapachnik E.

Ann Noninvasive Electrocardiol. 2004 Apr;9(2):175-9. Review.

PMID:
15084216
15.

Review: Metabolic cardiomyopathy and conduction system defects in children.

Gilbert-Barness E.

Ann Clin Lab Sci. 2004 Winter;34(1):15-34. Review.

PMID:
15038665
16.

The intracellular transport of chylomicrons requires the small GTPase, Sar1b.

Shoulders CC, Stephens DJ, Jones B.

Curr Opin Lipidol. 2004 Apr;15(2):191-7. Review.

PMID:
15017362
17.

The genes and proteins of atherogenic lipoprotein production.

Shoulders CC, Naoumova RP.

Biochem Soc Trans. 2004 Feb;32(Pt 1):70-4. Review.

PMID:
14748715
18.

[Metabolic intolerance to exercise].

Arenas J, Martín MA.

Neurologia. 2003 Jul-Aug;18(6):291-302. Review. Spanish.

PMID:
12838448
19.

Glycogen storage diseases.

Wolfsdorf JI, Weinstein DA.

Rev Endocr Metab Disord. 2003 Mar;4(1):95-102. Review. No abstract available.

PMID:
12618563
20.

An expanding view for the molecular basis of familial periodic paralysis.

Cannon SC.

Neuromuscul Disord. 2002 Aug;12(6):533-43. Review.

PMID:
12117476

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