These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 20532819)

  • 21. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
    Massese M; Tagliaferri F; Dionisi-Vici C; Maiorana A
    Orphanet J Rare Dis; 2022 Jun; 17(1):241. PubMed ID: 35725468
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
    Shen J; Bao Y; Liu HM; Lee P; Leonard JV; Chen YT
    J Clin Invest; 1996 Jul; 98(2):352-7. PubMed ID: 8755644
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Gene therapy for glycogen storage diseases.
    Kishnani PS; Sun B; Koeberl DD
    Hum Mol Genet; 2019 Oct; 28(R1):R31-R41. PubMed ID: 31227835
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Forty-eight novel mutations causing biotinidase deficiency.
    Procter M; Wolf B; Mao R
    Mol Genet Metab; 2016 Mar; 117(3):369-72. PubMed ID: 26810761
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
    Fernandes SA; Cooper GE; Gibson RA; Kishnani PS
    Mol Genet Metab; 2020 Nov; 131(3):299-305. PubMed ID: 33317799
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
    Ahmed S; Akbar F; Ali AJ; Afroze B
    J Pediatr Endocrinol Metab; 2022 Mar; 35(3):373-385. PubMed ID: 34989216
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].
    Qiu ZQ; Wei M; Liu G; Liu GY
    Zhonghua Er Ke Za Zhi; 2003 Apr; 41(4):252-5. PubMed ID: 14754525
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism.
    Lee PJ; Patel A; Hindmarsh PC; Mowat AP; Leonard JV
    Clin Endocrinol (Oxf); 1995 Jun; 42(6):601-6. PubMed ID: 7634500
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III.
    Kalkan Ucar S; Coker M; Sözmen E; Goksen Simsek D; Darcan S
    Nutr Metab Cardiovasc Dis; 2009 Jul; 19(6):383-90. PubMed ID: 19073362
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX.
    Geberhiwot T; Alger S; McKiernan P; Packard C; Caslake M; Elias E; Cramb R
    J Inherit Metab Dis; 2007 Jun; 30(3):406. PubMed ID: 17407002
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
    Matern D; Seydewitz HH; Bali D; Lang C; Chen YT
    Eur J Pediatr; 2002 Oct; 161 Suppl 1():S10-9. PubMed ID: 12373566
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
    Davit-Spraul A; Piraud M; Dobbelaere D; Valayannopoulos V; Labrune P; Habes D; Bernard O; Jacquemin E; Baussan C
    Mol Genet Metab; 2011; 104(1-2):137-43. PubMed ID: 21646031
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
    Sperb-Ludwig F; Pinheiro FC; Bettio Soares M; Nalin T; Ribeiro EM; Steiner CE; Ribeiro Valadares E; Porta G; Fishinger Moura de Souza C; Schwartz IVD
    Mol Genet Genomic Med; 2019 Nov; 7(11):e877. PubMed ID: 31508908
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Genetic heterogeneity and the diagnosis of hepatic glycogenoses].
    Lemonnier A; Baussan C; Moatti N
    C R Seances Soc Biol Fil; 1984; 178(4):327-47. PubMed ID: 6241011
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
    Mahmoud SK; Khorrami A; Rafeey M; Ghergherehchi R; Sima MD
    J Genet; 2017 Mar; 96(1):19-23. PubMed ID: 28360385
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Liver transplantation for glycogen storage disease types I, III, and IV.
    Matern D; Starzl TE; Arnaout W; Barnard J; Bynon JS; Dhawan A; Emond J; Haagsma EB; Hug G; Lachaux A; Smit GP; Chen YT
    Eur J Pediatr; 1999 Dec; 158 Suppl 2(Suppl 2):S43-8. PubMed ID: 10603098
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    Mol Genet Metab; 2007; 92(1-2):88-99. PubMed ID: 17689125
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.
    Kido J; Nakamura K; Matsumoto S; Mitsubuchi H; Ohura T; Shigematsu Y; Yorifuji T; Kasahara M; Horikawa R; Endo F
    J Hum Genet; 2013 May; 58(5):285-92. PubMed ID: 23486339
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
    Beyzaei Z; Ezgu F; Geramizadeh B; Alborzi A; Shojazadeh A
    BMC Pediatr; 2021 Apr; 21(1):175. PubMed ID: 33858366
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Nutrition therapy for hepatic glycogen storage diseases.
    Goldberg T; Slonim AE
    J Am Diet Assoc; 1993 Dec; 93(12):1423-30. PubMed ID: 8245377
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.