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Items: 1 to 20 of 500

1.

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Jagadisan B, Ranganath P.

Indian Pediatr. 2017 Sep 15;54(9):775-776.

PMID:
28984260
2.

Glycogen Storage Disease Type VI.

Dagli AI, Weinstein DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2009 Apr 23 [updated 2011 May 17].

3.

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.

J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.

PMID:
17705025
4.

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG.

Hum Mol Genet. 1998 May;7(5):865-70.

PMID:
9536091
5.

Effect of clonidine on the height of a child with glycogen storage disease type VI: a 13 year follow-up study.

Asami T, Kikuchi T, Asami K, Uchiyama M.

Acta Paediatr Jpn. 1996 Oct;38(5):524-8.

PMID:
8942015
6.

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI.

Dahan N, Baussan C, Moatti N, Lemonnier A.

J Inherit Metab Dis. 1988;11(3):253-60.

PMID:
3148066
7.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.

Mol Genet Metab. 2014 Mar;111(3):309-313. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.

8.

Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

Hirono H, Shoji Y, Takahashi T, Sato W, Takeda E, Nishijo T, Kuroda Y, Nishigaki T, Inui K, Takada G.

J Inherit Metab Dis. 1998 Dec;21(8):846-52.

PMID:
9870210
9.

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW.

Am J Hum Genet. 1998 Apr;62(4):785-91.

10.

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE.

Biochem Biophys Res Commun. 1997 Jul 30;236(3):544-8.

PMID:
9245685
11.

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R.

Am J Hum Genet. 1995 Feb;56(2):381-7.

13.

Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.

Goji K, Morishita Y, Kodama S, Takahashi T, Matsuo T.

Eur J Pediatr. 1985 Jan;143(3):179-82.

PMID:
3987709
14.

The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.

Newgard CB, Fletterick RJ, Anderson LA, Lebo RV.

Am J Hum Genet. 1987 Apr;40(4):351-64.

15.

Regional localization of loci on chromosome 14 using somatic cell hybrids.

Billingsley GD, Cox DW, Duncan AM, Goodfellow PJ, Grzeschik KH.

Cytogenet Cell Genet. 1994;66(1):33-8.

PMID:
8275705
16.

The structure of brain glycogen phosphorylase-from allosteric regulation mechanisms to clinical perspectives.

Mathieu C, Dupret JM, Rodrigues Lima F.

FEBS J. 2017 Feb;284(4):546-554. doi: 10.1111/febs.13937. Epub 2016 Nov 12. Review.

PMID:
27782369
17.

Aliiglaciecola aliphaticivorans sp. nov., an aliphatic hydrocarbon-degrading bacterium, isolated from a sea-tidal flat and emended description of the genus Aliiglaciecola Jean et al. 2013.

Jin HM, Jeong HI, Jeon CO.

Int J Syst Evol Microbiol. 2015 May;65(Pt 5):1550-5. doi: 10.1099/ijs.0.000133. Epub 2015 Feb 23.

PMID:
25713045
18.

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S.

Mol Genet Metab. 2014 Nov;113(3):171-6. doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21.

PMID:
25266922
19.

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA.

J Inherit Metab Dis. 2015 May;38(3):489-93. doi: 10.1007/s10545-014-9744-1. Epub 2014 Jul 29.

PMID:
25070466
20.

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.

PMID:
21646031

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