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 *

236 related articles for article (PubMed ID: 6313372)

  • 1. Glycogen storage disease type Ib.
    Schaub J; Heyne K
    Eur J Pediatr; 1983 Sep; 140(4):283-8. PubMed ID: 6313372
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A direct method for the diagnosis of human hepatic type 1b and type 1c glycogen-storage disease.
    Waddell ID; Hume R; Burchell A
    Clin Sci (Lond); 1989 Jun; 76(6):573-9. PubMed ID: 2544342
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.
    Lange AJ; Arion WJ; Beaudet AL
    J Biol Chem; 1980 Sep; 255(18):8381-4. PubMed ID: 6251055
    [No Abstract]   [Full Text] [Related]  

  • 4. How many forms of glycogen storage disease type I?
    Veiga-da-Cunha M; Gerin I; Van Schaftingen E
    Eur J Pediatr; 2000 May; 159(5):314-8. PubMed ID: 10834514
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB.
    Igarashi Y; Kato S; Narisawa K; Tada K; Amano Y; Mori T; Takeuchi S
    Biochem Biophys Res Commun; 1984 Mar; 119(2):593-7. PubMed ID: 6143556
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
    Veiga-da-Cunha M; Gerin I; Chen YT; de Barsy T; de Lonlay P; Dionisi-Vici C; Fenske CD; Lee PJ; Leonard JV; Maire I; McConkie-Rosell A; Schweitzer S; Vikkula M; Van Schaftingen E
    Am J Hum Genet; 1998 Oct; 63(4):976-83. PubMed ID: 9758626
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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;
    Genet Med; 2014 Nov; 16(11):e1. PubMed ID: 25356975
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Glycogen storage disease type Ib without neutropenia.
    Kure S; Hou DC; Suzuki Y; Yamagishi A; Hiratsuka M; Fukuda T; Sugie H; Kondo N; Matsubara Y; Narisawa K
    J Pediatr; 2000 Aug; 137(2):253-6. PubMed ID: 10931421
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta.
    Hawkins RA; Kamath KR; Scott HM; Burchell A
    J Inherit Metab Dis; 1995; 18(5):558-66. PubMed ID: 8598636
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Glycogenosis I b].
    Longhi R; Buttè C; Vittorelli A; Scaglioni S; Paccanelli S; Riva E
    Minerva Pediatr; 1984 Jul; 36(13-14):707-12. PubMed ID: 6095004
    [No Abstract]   [Full Text] [Related]  

  • 12. Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane.
    Narisawa K; Igarashi Y; Tada K
    Enzyme; 1987; 38(1-4):177-83. PubMed ID: 2831040
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnosis of type 1a and type 1c glycogen storage diseases in adults.
    Burchell A; Jung RT; Lang CC; Bennet W; Shepherd AN
    Lancet; 1987 May; 1(8541):1059-62. PubMed ID: 2883397
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Glycogen storage disease type Ib: the first case in Taiwan.
    Hsiao HJ; Chang HH; Hwu WL; Lam CW; Lee NC; Chien YH
    Pediatr Neonatol; 2009 Jun; 50(3):125-8. PubMed ID: 19579760
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification, purification and genetic deficiencies of the glucose-6-phosphatase system transport proteins.
    Waddell ID; Burchell A
    Eur J Pediatr; 1993; 152 Suppl 1():S14-7. PubMed ID: 8391441
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glycogen storage disease type 1b due to a defect of glucose-6-phosphate translocase.
    Narisawa K; Otomo H; Igarashi Y; Arai N; Otake M; Tada K; Kuzuya T
    J Inherit Metab Dis; 1982; 5(4):227-8. PubMed ID: 6133035
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Glucose-6-phosphate translocase deficiency--glycogen storage disease type 1 b].
    Narisawa K
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):813-6. PubMed ID: 2855954
    [No Abstract]   [Full Text] [Related]  

  • 18. Diagnosis of the genetic deficiencies of each of the proteins of the multicomponent glucose-6-phosphatase system.
    Scott HM; Waddell ID; Lyall H; Burchell A
    Biochem Soc Trans; 1993 Feb; 21(1):34S. PubMed ID: 8383611
    [No Abstract]   [Full Text] [Related]  

  • 19. Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
    Trioche P; Petit F; Francoual J; Gajdos V; Capel L; Poüs C; Labrune P
    J Inherit Metab Dis; 2004; 27(5):621-3. PubMed ID: 15669677
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A Chinese patient with glycogen storage disease type Ib caused by mutations in the glucose-6-phosphate translocase gene].
    Lin Q; Zheng B; Li M
    Zhonghua Er Ke Za Zhi; 2014 Jan; 52(1):58-60. PubMed ID: 24680411
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.