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 *

123 related articles for article (PubMed ID: 2988520)

  • 21. Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
    Marlhens F; Chelly J; Kaplan JC; Lefrancois D; Harpey JP; Dutrillaux B
    Hum Genet; 1987 Dec; 77(4):379-83. PubMed ID: 2891606
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
    McCabe ER; Fennessey PV; Guggenheim MA; Miles BS; Bullen WW; Sceats DJ; Goodman SI
    Biochem Biophys Res Commun; 1977 Oct; 78(4):1327-33. PubMed ID: 200232
    [No Abstract]   [Full Text] [Related]  

  • 23. Deficiency of glycerol kinase (EC 2.7.1.30).
    Eriksson A; Lindstedt S; Ransnäs L; von Wendt L
    Clin Chem; 1983 Apr; 29(4):718-22. PubMed ID: 6299616
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Complex glycerol kinase deficiency in three children].
    Li XZ; Liu L; Mei HF
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct; 9(5):441-4. PubMed ID: 17937854
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
    Clarke A; Roberts SH; Thomas NS; Whitfield A; Williams J; Harper PS
    J Med Genet; 1986 Dec; 23(6):501-8. PubMed ID: 3027343
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
    Peter M; Viemann M; Partsch CJ; Sippell WG
    J Clin Endocrinol Metab; 1998 Aug; 83(8):2666-74. PubMed ID: 9709929
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization.
    McCabe ER; Sadava D; Bullen WW; McKelvey HA; Seltzer WK; Rose CI
    J Inherit Metab Dis; 1982; 5(4):177-82. PubMed ID: 6302392
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.
    Almontashiri NAM; Berry GT; Majzoub J; Peake RWA
    Clin Chem; 2018 Dec; 64(12):1785-1787. PubMed ID: 30487191
    [No Abstract]   [Full Text] [Related]  

  • 29. Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis.
    Bartley JA; Ward R
    Pediatr Res; 1985 Mar; 19(3):313-4. PubMed ID: 2984635
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
    Towbin JA; Wu DR; Chamberlain J; Larsen PD; Seltzer WK; McCabe ER
    Hum Genet; 1989 Sep; 83(2):122-6. PubMed ID: 2550352
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
    Cole DE; Clarke LA; Riddell DC; Samson KA; Seltzer WK; Salisbury S
    Clin Chem; 1994 Nov; 40(11 Pt 1):2099-103. PubMed ID: 7955386
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
    Renier WO; Nabben FA; Hustinx TW; Veerkamp JH; Otten BJ; Ter Laak HJ; Ter Haar BG; Gabreëls FJ
    Clin Genet; 1983 Oct; 24(4):243-51. PubMed ID: 6315281
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
    Chelly J; Marlhens F; Dutrillaux B; Van Ommen GJ; Lambert M; Haioun B; Boissinot G; Fardeau M; Kaplan JC
    Hum Genet; 1988 Mar; 78(3):222-7. PubMed ID: 2894344
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The diagnostic difficulties of complex glycerol kinase deficiency.
    Ramanjam V; Delport S; Wilmshurst JM
    J Child Neurol; 2010 Oct; 25(10):1269-71. PubMed ID: 20110216
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
    Saito F; Goto J; Kakinuma H; Nakamura F; Murayama S; Nakano I; Tonomura A
    Clin Genet; 1986 Jan; 29(1):92-3. PubMed ID: 3004790
    [No Abstract]   [Full Text] [Related]  

  • 36. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
    Matsumoto T; Kondoh T; Yoshimoto M; Fujieda K; Matsuura N; Matsuda I; Miike T; Yano K; Okuno A; Aoki Y
    Am J Med Genet; 1988 Nov; 31(3):603-16. PubMed ID: 2852474
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.
    Goussault Y; Turpin E; Neel D; Dreux C; Chanu B; Bakir R; Rouffy J
    Clin Chim Acta; 1982 Aug; 123(3):269-74. PubMed ID: 6288290
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
    Korkut S; Baştuğ O; Raygada M; Hatipoğlu N; Kurtoğlu S; Kendirci M; Lyssikatos C; Stratakis CA
    J Clin Res Pediatr Endocrinol; 2016 Dec; 8(4):468-471. PubMed ID: 27087023
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
    Wikiera B; Jakubiak A; Zimowski J; Noczyńska A; Smigiel R
    Pediatr Endocrinol Diabetes Metab; 2012; 18(4):153-7. PubMed ID: 23739620
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    McCabe ER; Towbin J; Chamberlain J; Baumbach L; Witkowski J; van Ommen GJ; Koenig M; Kunkel LM; Seltzer WK
    J Clin Invest; 1989 Jan; 83(1):95-9. PubMed ID: 2536049
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.