Menkes s disease

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Menkes s disease

LE WE PMID CA

Menkes s disease

1755

Menkes Erkrankung

Atox1

ATP6V0A2

ATP7A

ATP7B

Bedlington terrier

COG7

Congenital disorder of glycosylation

Copper

Ctr1

Cutis laxa syndrome

LEC rat

Menkes s disease

P5CS Pyrroline 5 carboxylate synthase

PYCR1

Wilson s disease

Xist and X chromosomal inactivation

1998 1	Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. [9587147] Am J Clin Nutr 67(5 Suppl): 1029S-1034S (1998)
1998 2	Menkes syndrome and animal models. [9587146] Am J Clin Nutr 67(5 Suppl): 1022S-1028S (1998)
1997 3	Menkes disease: recent advances and new aspects. [9138147] J Med Genet 34(4): 265-74 (1997)
1995 4	Menkes disease. [7783172] J Med Genet 32(3): 213-5 (1995)
2003 5	Genetic defects in copper metabolism. [12730458] J Nutr 133(5 Suppl 1): 1527S-31S (2003)
2010 6	Menkes disease. [19888294] Eur J Hum Genet 18(5): 511-8 (2010)
2007 7	Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. [17717039] J Med Genet 44(11): 673-88 (2007)
2011 8	Metabolic cutis laxa syndromes. [21431621] J Inherit Metab Dis 34(4): 907-16 (2011)
2011 9	Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. [20497190] Clin Genet 79(2): 176-82 (2011)

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