Podskarbi T - Search Results

1

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

Hüner G, Podskarbi T, Schütz M, Baykal T, Sarbat G, Shin YS, Demirkol M. Hüner G, et al. Among authors: podskarbi t. J Inherit Metab Dis. 1998 Jun;21(4):445-6. doi: 10.1023/a:1005339616074. J Inherit Metab Dis. 1998. PMID: 9700612 No abstract available.

2

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M. Okubo M, et al. Among authors: podskarbi t. Clin Chim Acta. 2015 Jan 15;439:162-7. doi: 10.1016/j.cca.2014.10.016. Epub 2014 Oct 23. Clin Chim Acta. 2015. PMID: 25451950

3

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.

Keller KM, Schütz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS. Keller KM, et al. Among authors: podskarbi t. J Pediatr. 1998 Feb;132(2):360-1. doi: 10.1016/s0022-3476(98)70463-9. J Pediatr. 1998. PMID: 9506659

4

Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.

Podskarbi T, Reichardt J, Shin YS. Podskarbi T, et al. J Inherit Metab Dis. 1994;17(1):149-50. doi: 10.1007/BF00735422. J Inherit Metab Dis. 1994. PMID: 8051928 No abstract available.

5

Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.

Shin YS, Plöchl E, Podskarbi T, Muss W, Pilz P, Puttinger R. Shin YS, et al. Among authors: podskarbi t. J Inherit Metab Dis. 1994;17(1):153-5. doi: 10.1007/BF00735424. J Inherit Metab Dis. 1994. PMID: 8051930 No abstract available.

6

Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

Shin YS, Zschocke J, Das AM, Podskarbi T. Shin YS, et al. Among authors: podskarbi t. J Inherit Metab Dis. 1999 May;22(3):327-9. doi: 10.1023/a:1005516523196. J Inherit Metab Dis. 1999. PMID: 10384398 No abstract available.

7

Purification of alpha and beta subunits of phosphorylase-b-kinase in human liver and cardiac muscle by affinity chromatography and immunodetection.

Podskarbi T, Endres W, Shin YS. Podskarbi T, et al. J Inherit Metab Dis. 1991;14(3):308-10. doi: 10.1007/BF01811689. J Inherit Metab Dis. 1991. PMID: 1770779 No abstract available.

8

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M. Endo Y, et al. Among authors: podskarbi t. J Hum Genet. 2006;51(11):958-963. doi: 10.1007/s10038-006-0045-x. Epub 2006 Sep 19. J Hum Genet. 2006. PMID: 17047887

9

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M. Aoyama Y, et al. Among authors: podskarbi t. J Hum Genet. 2009 Nov;54(11):681-6. doi: 10.1038/jhg.2009.100. Epub 2009 Oct 16. J Hum Genet. 2009. PMID: 19834502

10

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.

Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M. Aoyama Y, et al. Among authors: podskarbi t. Pediatr Int. 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x. Pediatr Int. 2010. PMID: 20158661 No abstract available.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

36 results

Search Page

Filters