Glycogen storage disease IV, nonprogressive hepatic

MedGen UID:: 865551
•Concept ID:: C4017114
•: Finding

Synonym:	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC

OMIM®:	607839

Recent clinical studies

Etiology

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588 Free PMC Article

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Diagnosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

Moses SW, Parvari R
Curr Mol Med 2002 Mar;2(2):177-88. doi: 10.2174/1566524024605815. PMID: 11949934

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. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. PMID: 10521841

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Therapy

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

See all (1)

Prognosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

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. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. PMID: 10521841

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. doi: 10.1007/BF01799348. PMID: 8830177

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao Y, Kishnani P, Wu JY, Chen YT
J Clin Invest 1996 Feb 15;97(4):941-8. doi: 10.1172/JCI118517. PMID: 8613547 Free PMC Article

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Clinical prediction guides

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

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. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. PMID: 10521841

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. doi: 10.1007/BF01799348. PMID: 8830177

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao Y, Kishnani P, Wu JY, Chen YT
J Clin Invest 1996 Feb 15;97(4):941-8. doi: 10.1172/JCI118517. PMID: 8613547 Free PMC Article

See all (4)

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Glycogen storage disease IV, nonprogressive hepatic

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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