Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 60

1.

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, Weinstein DA.

Genet Med. 2012 Sep;14(9):795-9. doi: 10.1038/gim.2012.41. Epub 2012 Jun 7.

PMID:
22678084
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Bone mineral density in glycogen storage disease type Ia and Ib.

Minarich LA, Kirpich A, Fiske LM, Weinstein DA.

Genet Med. 2012 Apr 5. doi: 10.1038/gim.2012.36. [Epub ahead of print]

PMID:
22481133
[PubMed - as supplied by publisher]
Free PMC Article
3.

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

Kishnani PS, Chuang TP, Bali D, Koeberl D, Austin S, Weinstein DA, Murphy E, Chen YT, Boyette K, Liu CH, Chen YT, Li LH.

Hum Mol Genet. 2009 Dec 15;18(24):4781-90. doi: 10.1093/hmg/ddp441. Epub 2009 Sep 16.

PMID:
19762333
[PubMed - indexed for MEDLINE]
Free Article
4.

The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia.

Gibson QH.

Biochem J. 1948;42(1):13-23. No abstract available.

PMID:
16748235
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Regulation of blood glucose by hypothalamic pyruvate metabolism.

Lam TK, Gutierrez-Juarez R, Pocai A, Rossetti L.

Science. 2005 Aug 5;309(5736):943-7.

PMID:
16081739
[PubMed - indexed for MEDLINE]
Free Article
6.

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D, Webb M, Risch N.

Am J Med Genet A. 2004 Aug 30;129A(2):162-4.

PMID:
15316959
[PubMed - indexed for MEDLINE]
7.

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.

Clin Genet. 2004 Jun;65(6):487-9.

PMID:
15151508
[PubMed - indexed for MEDLINE]
8.

Glucose-6-phosphatase of the liver in glycogen storage disease.

CORI GT, CORI CF.

J Biol Chem. 1952 Dec;199(2):661-7. No abstract available.

PMID:
13022673
[PubMed - indexed for MEDLINE]
Free Article
9.

Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.

Sun MS, Pan CJ, Shieh JJ, Ghosh A, Chen LY, Mansfield BC, Ward JM, Byrne BJ, Chou JY.

Hum Mol Genet. 2002 Sep 1;11(18):2155-64.

PMID:
12189168
[PubMed - indexed for MEDLINE]
Free Article
10.

Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).

Wierzbicki AS, Watt GF, Lynas J, Winder AF, Wray R.

J Inherit Metab Dis. 2001 Oct;24(5):527-34.

PMID:
11757580
[PubMed - indexed for MEDLINE]
11.

Decreased urinary citrate excretion in type 1a glycogen storage disease.

Weinstein DA, Somers MJ, Wolfsdorf JI.

J Pediatr. 2001 Mar;138(3):378-82.

PMID:
11241046
[PubMed - indexed for MEDLINE]
12.

Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.

Trioche P, Francoual J, Capel L, Odièvre M, Lindenbaum A, Labrune P.

J Inherit Metab Dis. 2000 Mar;23(2):107-12.

PMID:
10801051
[PubMed - indexed for MEDLINE]
13.

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K.

Am J Med Genet. 2000 Mar 13;91(2):107-12.

PMID:
10748407
[PubMed - indexed for MEDLINE]
14.

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

Seydewitz HH, Matern D.

Hum Mutat. 2000 Jan;15(1):115-6.

PMID:
10612834
[PubMed - indexed for MEDLINE]
15.

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.

Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O.

J Inherit Metab Dis. 1999 Aug;22(6):723-32.

PMID:
10472532
[PubMed - indexed for MEDLINE]
16.

Molecular Genetics of Type 1 Glycogen Storage Diseases.

Yang Chou J, Mansfield BC.

Trends Endocrinol Metab. 1999 Apr;10(3):104-113.

PMID:
10322403
[PubMed - as supplied by publisher]
17.

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R.

J Inherit Metab Dis. 1999 Feb;22(1):43-9.

PMID:
10070617
[PubMed - indexed for MEDLINE]
18.

Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease.

Marcolongo P, Bánhegyi G, Benedetti A, Hinds CJ, Burchell A.

J Clin Endocrinol Metab. 1998 Jan;83(1):224-9.

PMID:
9435446
[PubMed - indexed for MEDLINE]
19.

Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.

Nuoffer JM, Mullis PE, Wiesmann UN.

J Inherit Metab Dis. 1997 Nov;20(6):790-8.

PMID:
9427147
[PubMed - indexed for MEDLINE]
20.

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW.

Am J Med Genet. 1997 Oct 31;72(3):286-90.

PMID:
9332655
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk