Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1993 • 6,762 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

1993 • 1,395 citations

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

1996 • 1,261 citations

Ion motive ATPases. I. Ubiquity, properties, and significance to cell function

1987 • 964 citations

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1993 • 720 citations

Isolation of a partial candidate gene for Menkes disease by positional cloning

1993 • 690 citations

The rate of spontaneous mutation of a human gene

1935 • 510 citations

MENKES' KINKY-HAIR SYNDROME

1972 • 418 citations

MENKES'S KINKY HAIR SYNDROME

1972 • 397 citations

An introduction to the free radical hypothesis in Parkinson's disease

1992 • 385 citations

Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae

1993 • 379 citations

Identification in pituitary tissue of a peptide alpha-amidation activity that acts on glycine-extended peptides and requires molecular oxygen, copper, and ascorbic acid.

1983 • 363 citations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1994 • 259 citations

Lysyl Oxidase

1979 • 221 citations

Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper Transport

1973 • 217 citations

Copper Deficiency in Sheep in Western Australia: A Preliminary Account of the Ætiology of Enzootic Ataxia of Lambs and an Anæmia of Ewes

1937 • 190 citations

Isolated Failure of Autonomic Noradrenergic Neurotransmission

1986 • 181 citations

Menkes disease: a biochemical abnormality in cultured human fibroblasts.

1976 • 172 citations

Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome

1980 • 154 citations

Kinky Hair Disease

1966 • 146 citations

Trichopoliodystrophy

1972 • 140 citations

Age- and sex-specific pediatric reference intervals and correlations for zinc, copper, selenium, iron, vitamins A and E, and related proteins.

1988 • 132 citations

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1995 • 132 citations

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

1994 • 119 citations

Cytochrome c Oxidase Deficiency

1990 • 112 citations

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease

1987 • 112 citations

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease

1993 • 101 citations

Radiological Findings in the Kinky-Hair Syndrome

1969 • 83 citations

Dopamine‐β‐hydroxylase deficiency in humans

1990 • 77 citations

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

1995 • 76 citations

Copper infusion therapy in trichopoliodystrophy

1975 • 74 citations

64Cu Metabolism in Menkes and Normal Cultured Skin Fibroblasts

1978 • 72 citations

Cell culture studies of menkes kinky hair disease

1978 • 70 citations

Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines

1987 • 69 citations

Extra-hepatic storage of copper

1975 • 68 citations

Copper Histidinate Therapy in Menkes’ Disease: Prevention of Progressive Neurodegeneration

1989 • 64 citations

Kinky Hair Syndrome: Serial Study of Radiological Findings with Emphasis on the Similarity to the Battered Child Syndrome

1974 • 63 citations

Successful Early Copper Therapy in Menkes Disease Associated with a Mutant Transcript Containing a Small In-Frame Deletion

1996 • 63 citations

Expression and Accumulation of Lysyl Oxidase, Elastin, and Type I Procollagen in Human Menkes and Mottled Mouse Fibroblasts

1993 • 59 citations

Menkes's steely hair syndrome.

1976 • 58 citations

Genetic expression of Menkes disease in cultured astrocytes of the macular mouse

1991 • 57 citations

Menkes X‐linked disease: Prenatal diagnosis of hemizygous males and heterozygous females

1981 • 56 citations

Kinky Hair Disease

1966 • 56 citations

Menkes' disease: long-term treatment with copper and D-penicillamine

1988 • 52 citations

Regional Specificity in Alterations of Rat Brain Copper and Catecholamines Following Perinatal Copper Deficiency

1994 • 50 citations

Increased Copper Metallothionein in Menkes Cultured Skin Fibroblasts

1981 • 50 citations

The Ocular Pathology of Menkes' Disease

1968 • 49 citations

Kinky Hair Syndrome

1971 • 46 citations

Bladder Diverticula and Menkes' Syndrome

1977 • 46 citations

Spectrum of EEG findings in Menkes disease

1993 • 45 citations

Urologic Abnormalities in Menkes’ Syndrome

1981 • 44 citations

Sex-Linked Neurodegenerative Disease Associated with Monilethrix

1965 • 42 citations

Ectodermal manifestations in Menkes disease

1985 • 42 citations

Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease

1993 • 41 citations

Cytochrome c oxidase deficiency in menkes kinky hair disease

1983 • 41 citations

Tissue Copper Concentrations of Patients With Menkes' Kinky Hair Disease

1981 • 36 citations

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

1993 • 35 citations

MR of progressive neurodegenerative change in treated Menkes' kinky hair disease

1991 • 33 citations

The failure of parenteral copper therapy in Menkes Kinky Hair Syndrome

1984 • 33 citations

Serial imaging of Menkes disease

1990 • 33 citations

Menkes disease.

1995 • 32 citations

Menkes' disease: neurophysiological aspects.

1978 • 32 citations

Alterations of Rat Brain Peptidylglycine -Amidating Monooxygenase and Other Cuproenzyme Activities Following Perinatal Copper Deficiency

1995 • 29 citations

Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper.

1978 • 28 citations

Cerebral MR of Menkes kinky-hair disease.

1989 • 25 citations

Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome—Trichopoliodystrophy

1984 • 25 citations

Cerebellar superoxide dismutase expression in Menkes' kinky hair disease: an immunohistochemical investigation

1995 • 24 citations

A defect in catecholamine metabolism in kinky‐hair disease

1982 • 23 citations

Abnormal copper metabolism in menkes cultured fibroblasts

1980 • 22 citations

Early osseous abnormalities in Menkes' Kinky Hair Syndrome

1979 • 21 citations

[The osseous abnormalities in Menke's syndrome].

1976 • 20 citations

Markedly Reduced Activity of Lysyl Oxidase in Skin and Aorta from a Patient with Menkesʼ Disease Showing Unusually Severe Connective Tissue Manifestations1

1990 • 16 citations

Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes

1989 • 16 citations

Child Neurology: A Clinical Manual

1995 • 9 citations

Reference intervals for eight plasma proteins in preterm and term newborns by laser nephelometry.

1986 • 5 citations

Reply

1997 • 1 citations

COMPARISON OF PLASMA CATECHOL LEVELS FROM CORD BLOOD AND INFANT VENOUS BLOOD IN THE NEONATAL DIAGNOSIS OF MENKES DISEASE. † 861

1996 • 1 citations