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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the …
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney …
Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
Hoffmann D, Kuehle J, Lenz D, Philipp F, Zychlinski D, Lachmann N, Moritz T, Steinemann D, Morgan M, Skokowa J, Klein C, Schambach A. Hoffmann D, et al. Gene Ther. 2020 Jun;27(6):297-306. doi: 10.1038/s41434-020-0127-y. Epub 2020 Feb 12. Gene Ther. 2020. PMID: 32051561
Induced pluripotent stem cells (iPSCs) from patients with genetic disorders are a valuable source for in vitro disease models, which enable drug testing and validation of gene and cell therapies. We generated iPSCs from a severe congenital neutropenia (SCN) patient, who pr …
Induced pluripotent stem cells (iPSCs) from patients with genetic disorders are a valuable source for in vitro disease models, which enable …
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. Boztug K, et al. J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1. J Pediatr. 2012. PMID: 22050868
OBJECTIVE: To delineate the phenotypic and molecular spectrum of patients with a syndromic variant of severe congenital neutropenia (SCN) due to mutations in the gene encoding glucose-6-phosphatase catalytic subunit 3 (G6PC3). STUDY DESIGN: Patients wi …
OBJECTIVE: To delineate the phenotypic and molecular spectrum of patients with a syndromic variant of severe congenital neutropenia (SCN) du …
Glycogen storage disease: recommendations for treatment.
Fernandes J, Leonard JV, Moses SW, Odièvre M, di Rocco M, Schaub J, Smit GP, Ullrich K, Durand P. Fernandes J, et al. Eur J Pediatr. 1988 Apr;147(3):226-8. doi: 10.1007/BF00442683. Eur J Pediatr. 1988. PMID: 3292244 Review.
Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. ...
Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, gluc …
Newborn screening in Singapore.
Joseph R, Ho LY, Gomez JM, Rajdurai VS, Sivasankaran S, Yip YY. Joseph R, et al. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:23-4. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400771
Neonatal screening in Singapore for G6PD deficiency started in 1965. Screening for congenital hypothyroidism started in 1981 as a pilot research program and by 1990, it became nationwide. ...Data obtained from 22,830 newborns from the National University Hospital revealed …
Neonatal screening in Singapore for G6PD deficiency started in 1965. Screening for congenital hypothyroidism started in 1981 as a pil …
Dietary management of Type I glycogen storage disease.
Folk CC, Greene HL. Folk CC, et al. J Am Diet Assoc. 1984 Mar;84(3):293-8, 301. J Am Diet Assoc. 1984. PMID: 6583274
The most commonly recognized type of glycogen storage disease (von Gierke's disease) results from deficient glucose-6-phosphatase activity. This enzyme is the last step in the release of free glucose from the liver into the circulation. Thus, the most …
The most commonly recognized type of glycogen storage disease (von Gierke's disease) results from deficient glucose-6- …