scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1044424065 |
P356 | DOI | 10.1007/BF01802032 |
P698 | PubMed publication ID | 2560098 |
P2093 | author name string | M Yanagisawa | |
Y Kodama | |||
H Kodama | |||
I Okabe | |||
P2860 | cites work | Protein measurement with the Folin phenol reagent | Q20900776 |
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia | Q28615562 | ||
Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome | Q34570552 | ||
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome | Q41531865 | ||
Cell culture studies of Menkes kinky hair disease | Q42442478 | ||
Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy | Q48517707 | ||
Menkes' disease: abnormal metallothionein gene regulation in response to copper | Q48527789 | ||
Menkes' kinky hair disease: further definition of the defect in copper transport | Q48671244 | ||
Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis. | Q64905667 | ||
Isolation and quantitation of metallothionein isoforms using reversed-phase high-performance liquid chromatography | Q69400340 | ||
Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome | Q70516127 | ||
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants | Q71232454 | ||
P433 | issue | 4 | |
P921 | main subject | copper | Q753 |
P304 | page(s) | 386-389 | |
P577 | publication date | 1989-01-01 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome | |
P478 | volume | 12 |
Q38071046 | An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. |
Q41374951 | Copper transport and its alterations in Menkes and Wilson diseases. |
Q41919914 | Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases. |
Q92129362 | Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature |
Q72090710 | Effect of medium copper concentration on the growth, uptake and intracellular balance of copper and zinc in Menkes' and normal control cells |
Q28590524 | Genetic expression of Menkes disease in cultured astrocytes of the macular mouse |
Q33728164 | Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease |
Q96229607 | Mitochondria in skin health, aging, and disease |
Q28088624 | Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease |
Q24647056 | Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes |
Q41938076 | Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis. |
Q40865090 | Recent developments in Menkes disease |
Q52225852 | Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia. |
Q60933342 | Urological Problems in Patients with Menkes Disease |
Search more.