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Items: 1 to 20 of 100

1.

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P, Shen JJ, Boney A, Brown B, Chen YT.

J Inherit Metab Dis. 1996;19(1):51-8.

PMID:
8830177
2.

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.

Greene HL, Brown BI, McClenathan DT, Agostini RM Jr, Taylor SR.

Hepatology. 1988 Mar-Apr;8(2):302-6.

PMID:
3162725
3.
4.

Glycogen Storage Disease Type IV.

Magoulas PL, El-Hattab AW.

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.
2013 Jan 3.

5.
6.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C.

Neurology. 2004 Sep 28;63(6):1053-8.

PMID:
15452297
7.

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT.

Am J Med Genet A. 2006 Apr 15;140(8):878-82.

PMID:
16528737
8.
9.

Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.

Das BB, Narkewicz MR, Sokol RJ, Chen YT, Bali D, Li SC, Matthews MR, Mierau GW, Ivy DD.

Pediatr Transplant. 2005 Apr;9(2):261-5.

PMID:
15787805
10.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S161-8. doi: 10.1007/s10545-009-1134-8. Epub 2009 Apr 8.

PMID:
19357989
11.

Liver transplantation for glycogen storage disease types I, III, and IV.

Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT.

Eur J Pediatr. 1999 Dec;158 Suppl 2:S43-8. Review.

12.

Liver transplantation for type I and type IV glycogen storage disease.

Selby R, Starzl TE, Yunis E, Todo S, Tzakis AG, Brown BI, Kendall RS.

Eur J Pediatr. 1993;152 Suppl 1:S71-6.

13.

Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study.

Bannayan GA, Dean WJ, Howell RR.

Am J Clin Pathol. 1976 Oct;66(4):702-9.

PMID:
1067751
14.

Glycogen storage disease type IV: a case report.

Chan YJ, Lin SP, Chen BF.

Zhonghua Yi Xue Za Zhi (Taipei). 1999 Oct;62(10):743-7.

PMID:
10533307
15.

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA.

J Pediatr. 2004 Nov;145(5):705-9.

PMID:
15520786
16.

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Shen J, Liu HM, McConkie-Rosell A, Chen YT.

Prenat Diagn. 1999 Sep;19(9):837-9.

PMID:
10521841
17.

[A study of the abnormal polysaccharide in a child with type IV glycogen storage disease (author's transl)].

Scotto JM, de Barsy T, Hadchouel M, Bernard O.

Arch Fr Pediatr. 1981 Dec;38 Suppl 1:837-41. French.

PMID:
6949501
18.

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S83-90. doi: 10.1007/s10545-009-9026-5. Epub 2010 Jan 8.

PMID:
20058079
20.

Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats.

Fyfe JC, Giger U, Van Winkle TJ, Haskins ME, Steinberg SA, Wang P, Patterson DF.

Pediatr Res. 1992 Dec;32(6):719-25.

PMID:
1337588

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