217 related articles for article (PubMed ID: 10453199)
1. Clinical manifestations and treatment of Menkes disease and its variants.
Kodama H; Murata Y; Kobayashi M
Pediatr Int; 1999 Aug; 41(4):423-9. PubMed ID: 10453199
[TBL] [Abstract][Full Text] [Related]
2. Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.
Kodama H; Fujisawa C; Bhadhprasit W
Curr Drug Metab; 2012 Mar; 13(3):237-50. PubMed ID: 21838703
[TBL] [Abstract][Full Text] [Related]
3. Menkes disease: recent advances and new insights into copper metabolism.
Tümer Z; Horn N
Ann Med; 1996 Apr; 28(2):121-9. PubMed ID: 8732640
[TBL] [Abstract][Full Text] [Related]
4. Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
Proud VK; Mussell HG; Kaler SG; Young DW; Percy AK
Am J Med Genet; 1996 Oct; 65(1):44-51. PubMed ID: 8914740
[TBL] [Abstract][Full Text] [Related]
5. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Hum Mutat; 2013 Mar; 34(3):417-29. PubMed ID: 23281160
[TBL] [Abstract][Full Text] [Related]
6. Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol; 2013; 113():1745-54. PubMed ID: 23622398
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetics and pathophysiology of Menkes disease.
Kodama H; Murata Y
Pediatr Int; 1999 Aug; 41(4):430-5. PubMed ID: 10453200
[TBL] [Abstract][Full Text] [Related]
8. Menkes' syndrome: an updated review.
Hart DB
J Am Acad Dermatol; 1983 Jul; 9(1):145-52. PubMed ID: 6886097
[TBL] [Abstract][Full Text] [Related]
9. Metabolic and molecular bases of Menkes disease and occipital horn syndrome.
Kaler SG
Pediatr Dev Pathol; 1998; 1(1):85-98. PubMed ID: 10463276
[TBL] [Abstract][Full Text] [Related]
10. [Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support].
Rittinger O; Sander G; Schaller A; Gallati S; Mayr H; Sperl W
Klin Padiatr; 2005; 217(5):286-90. PubMed ID: 16167277
[TBL] [Abstract][Full Text] [Related]
11. [Copper metabolism and genetic disorders].
Shimizu N
Nihon Rinsho; 2016 Jul; 74(7):1151-5. PubMed ID: 27455805
[TBL] [Abstract][Full Text] [Related]
12. Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects.
Kodama H; Fujisawa C; Bhadhprasit W
Brain Dev; 2011 Mar; 33(3):243-51. PubMed ID: 21112168
[TBL] [Abstract][Full Text] [Related]
13. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N
Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860
[TBL] [Abstract][Full Text] [Related]
14. Small amounts of functional ATP7A protein permit mild phenotype.
Møller LB
J Trace Elem Med Biol; 2015; 31():173-7. PubMed ID: 25172213
[TBL] [Abstract][Full Text] [Related]
15. Menkes' kinky hair disease. I. Comparison of classical and unusual clinical and biochemical features in two patients.
Willemse J; Van den Hamer CJ; Prins HW; Jonker PL
Brain Dev; 1982; 4(2):105-14. PubMed ID: 7091567
[TBL] [Abstract][Full Text] [Related]
16. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Gu YH; Kodama H; Murata Y; Mochizuki D; Yanagawa Y; Ushijima H; Shiba T; Lee CC
Am J Med Genet; 2001 Mar; 99(3):217-22. PubMed ID: 11241493
[TBL] [Abstract][Full Text] [Related]
17. Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.
La Fontaine S; Firth SD; Lockhart PJ; Brooks H; Camakaris J; Mercer JF
Hum Mol Genet; 1999 Jun; 8(6):1069-75. PubMed ID: 10332039
[TBL] [Abstract][Full Text] [Related]
18. Drug targets in Menkes disease - prospective developments.
Kodama H; Gu YH; Mizunuma M
Expert Opin Ther Targets; 2001 Oct; 5(5):625-635. PubMed ID: 12540288
[TBL] [Abstract][Full Text] [Related]
19. Menkes disease: an X-linked neurological disorder of the copper metabolism.
Horn N; Tønnesen T; Tümer Z
Brain Pathol; 1992 Oct; 2(4):351-62. PubMed ID: 1341968
[TBL] [Abstract][Full Text] [Related]
20. Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction.
Kemppainen R; Hämäläinen ER; Kuivaniemi H; Tromp G; Pihlajaniemi T; Kivirikko KI
Arch Biochem Biophys; 1996 Apr; 328(1):101-6. PubMed ID: 8638917
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
