Results 141 to 150 of about 5,184,226 (184)

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease [PDF]

Turk J Haematol, 2019
Sayın S, Ünal Ş, Çetin M, Gümrük F.   +3 more
europepmc   +1 more source

Reduced Neutrophil Extracellular Trap (NET) Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release. [PDF]

Front Immunol, 2019
Cichon I, Ortmann W, Bednarz A, Lenartowicz M, Kolaczkowska E.   +4 more
europepmc   +1 more source

A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel. [PDF]

J Vet Intern Med
Fulton EA, Schwarz C, Jagannathan V, Leeb T, Gutierrez-Quintana R.   +4 more
europepmc   +1 more source

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Menkes disease

Cellular and Molecular Life Sciences, 2007
Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A. ATP7A has a dual function: it serves to incorporate copper into copper-dependent enzymes, and it maintains intracellular copper levels by removing excess copper from the cytosol.
BERTINI, IVANO, ROSATO, ANTONIO
openaire   +2 more sources

Neuropathology of Menkes' Disease

Developmental Medicine & Child Neurology, 1978
SUMMARYThree new unrelated cases of Menkes' disease are recorded. All three were male infants and died between six and 14 months of age. In each case the clinical diagnosis was confirmed by low serum levels of copper and by examination of the abnormal hair.
R O, Barnard, P V, Best, M, Erdohazi
openaire   +2 more sources

Incidence of Menkes disease

Human Genetics, 1991
We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976-87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298,000 live-born babies.
T, Tønnesen, W J, Kleijer, N, Horn
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Menkes' kinky hair disease

Neuroradiology, 1977
Four new cases of Menkes' kinky hair disease are reported with special attention to the vascular and particularly the cerebral vascular changes.
P, Ahlgren, S, Vestermark
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Infantile spasms and Menkes disease

Epileptic Disorders, 2000
ABSTRACT Epileptic seizures are a common feature in Menkes disease, an X‐linked genetic disorder of copper metabolism. Details of type of seizures are rarely reported. We report the evolution of infantile spasms in two patients with Menkes disease and the relation with subcutaneous administration of copperhistidine.
I, Sfaello, P, Castelnau, N, Blanc, H, Ogier, P, Evrard, A, Arzimanoglou   +5 more
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Cerebral infarction in Menkes’ disease

Pediatric Neurology, 2000
Menkes' disease is an X-linked disorder caused by impaired intracellular transport of copper. Currently, no therapy effectively arrests the relentless neurodegeneration of Menkes' disease. Previous neuroimaging reports of patients with Menkes' disease describe a range of abnormalities, including intracranial vessel tortuosity and cerebral white matter ...
G E, Hsich, R L, Robertson, M, Irons, J S, Soul, A J, du Plessis   +4 more
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Ectodermal manifestations in Menkes disease

Clinical Genetics, 1985
Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at‐risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state.
C M, Moore, R R, Howell
openaire   +2 more sources