PubMed (OMIM) for id: 5256

Year	Number of Results
1959	1
1961	1
1964	1
1966	1
1967	1
1969	2
1970	3
1973	1
1974	2
1978	1
1980	1
1985	2
1987	1
1990	2
1991	1
1992	2
1993	2
1994	1
1995	2
1996	2
1998	2
1999	1
2007	2
2014	1
2019	1
2020	1
2024	0

1

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

Fernandes SA, Cooper GE, Gibson RA, Kishnani PS. Fernandes SA, et al. Mol Genet Metab. 2020 Nov;131(3):299-305. doi: 10.1016/j.ymgme.2020.10.004. Epub 2020 Oct 10. Mol Genet Metab. 2020. PMID: 33317799 Free PMC article.

2

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.

3

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. Roscher A, et al. Mol Genet Metab. 2014 Nov;113(3):171-6. doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21. Mol Genet Metab. 2014. PMID: 25266922

4

Glycogen storage disease type IX: High variability in clinical phenotype.

Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Beauchamp NJ, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. doi: 10.1016/j.ymgme.2007.06.007. Epub 2007 Aug 3. Mol Genet Metab. 2007. PMID: 17689125

5

Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).

Fukao T, Zhang G, Aoki Y, Arai T, Teramoto T, Kaneko H, Sugie H, Kondo N. Fukao T, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):179-82. doi: 10.1016/j.ymgme.2007.05.007. Epub 2007 Jun 19. Mol Genet Metab. 2007. PMID: 17581768

6

PURIFICATION AND PROPERTIES OF RABBIT SKELETAL MUSCLE PHOSPHORYLASE B KINASE.

KREBS EG, LOVE DS, BRATVOLD GE, TRAYSER KA, MEYER WL, FISCHER EH. KREBS EG, et al. Biochemistry. 1964 Aug;3:1022-33. doi: 10.1021/bi00896a003. Biochemistry. 1964. PMID: 14220660 No abstract available.

7

Low leukocyte phosphorylase in hepatic phosphorylase-deficient glycogen storage disease.

WILLIAMS HE, FIELD JB. WILLIAMS HE, et al. J Clin Invest. 1961 Oct;40(10):1841-5. doi: 10.1172/JCI104408. J Clin Invest. 1961. PMID: 14007166 Free PMC article. No abstract available.

8

[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses].

HERS HG. HERS HG. Rev Int Hepatol. 1959;9(1):35-55. Rev Int Hepatol. 1959. PMID: 13646331 French. No abstract available.

9

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

Hendrickx J, Lee P, Keating JP, Carton D, Sardharwalla IB, Tuchman M, Baussan C, Willems PJ. Hendrickx J, et al. Am J Hum Genet. 1999 Jun;64(6):1541-9. doi: 10.1086/302399. Am J Hum Genet. 1999. PMID: 10330341 Free PMC article.

10

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.

Hendrickx J, Bosshard NU, Willems P, Gitzelmann R. Hendrickx J, et al. Eur J Pediatr. 1998 Nov;157(11):919-23. doi: 10.1007/s004310050967. Eur J Pediatr. 1998. PMID: 9835437

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

38 results

Results by year