Works matching Kinky hair syndrome
Results: 112
Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease.
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- Case Reports in Radiology, 2012, p. 1, doi. 10.1155/2012/684309
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- Article
ON THE PATHOGENESIS AND CLINICAL EXPRESSION OF MENKES' KINKY HAIR SYNDROME.
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- Nutrition Reviews, 1981, v. 39, n. 11, p. 391, doi. 10.1111/j.1753-4887.1981.tb06723.x
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- Article
Enfermedad de Menkes.
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- MedUNAB, 2010, v. 13, n. 3, p. 169
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- Article
Epilepsy secondary to Menkes' disease: five cases report and review of literature.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 12, p. 1074, doi. 10.3969/j.issn.1672-6731.2014.12.010
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- Article
Neurodegenerative Disorders with Hair Abnormalities: An Emergency Room Consultation for Dermatologists.
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- International Journal of Trichology, 2009, v. 1, n. 1, p. 30, doi. 10.4103/0974-7753.51929
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- Article
Menke's kinky hair syndrome – A spectrum of clinico-radiological findings.
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- Apollo Medicine, 2013, v. 10, n. 4, p. 302, doi. 10.1016/j.apme.2013.02.005
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- Article
Image of the Month: Answer.
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- 2014
- Publication type:
- Other
Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome -- Trichopoliodystrophy.
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- Clinical Pediatrics, 1984, v. 23, n. 9, p. 514, doi. 10.1177/000992288402300915
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- Article
Menkes' Kinky Hair Syndrome: Ultrastructural Cutaneous Alterations of the Elastic Fibers.
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- Pediatric Dermatology, 1997, v. 14, n. 5, p. 347, doi. 10.1111/j.1525-1470.1997.tb00978.x
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- Article
MENKES DISEASE.
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- 2016
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- Letter to the Editor
Novel <em>ATP7A </em>gene mutation in a patient with Menkes disease.
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- Application of Clinical Genetics, 2018, v. 11, p. 151, doi. 10.2147/TACG.S180087
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- Article
Human Macrophage ATP7A is Localized in the trans-Golgi Apparatus, Controls Intracellular Copper Levels, and Mediates Macrophage Responses to Dermal Wounds.
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- Inflammation, 2012, v. 35, n. 1, p. 167, doi. 10.1007/s10753-011-9302-z
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- Article
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.
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- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00068
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- Article
Lethal neonatal Menkes' disease with severe vasculopathy and fractures.
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- 1998
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- journal article
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
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- Cellular & Molecular Life Sciences, 2012, v. 69, n. 1, p. 149, doi. 10.1007/s00018-011-0743-1
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- Article
Structural biology: A platform for copper pumps.
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- Nature, 2011, v. 475, n. 7354, p. 41, doi. 10.1038/475041a
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- Article
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
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- Journal of Neuroimaging, 2011, v. 21, n. 2, p. e114, doi. 10.1111/j.1552-6569.2010.00476.x
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- Article
Eyelash involvement in acquired progressive kinking of the hair.
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- Clinical & Experimental Dermatology, 2012, v. 37, n. 5, p. 562, doi. 10.1111/j.1365-2230.2011.04243.x
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- Article
Menkes Disease- A Rare Neurodegenerative Disorder.
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- 2015
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- Case Study
Menkes Kinky Hair Syndrome: Is it a treatable disorder?
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- Clinical Genetics, 1977, v. 11, n. 2, p. 154, doi. 10.1111/j.1399-0004.1977.tb01294.x
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- Article
Therapeutic Use of Trace Elements in Dermatology.
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- Alternative Therapies in Health & Medicine, 2023, v. 29, n. 4, p. 246
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- Article
De Novo Mutation in ATP7A Gene with Severe Menkes Disease.
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- 2018
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- Case Study
Menkes disease and response to copper histidine: An Indian case series.
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- Annals of Indian Academy of Neurology, 2017, v. 20, n. 1, p. 62, doi. 10.4103/0972-2327.199907
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- Article
Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.
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- Applied Microscopy, 2021, v. 51, n. 1, p. 1, doi. 10.1186/s42649-021-00067-6
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- Article
Menkes disease -- A rare case report.
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- National Journal of Physiology, Pharmacy & Pharmacology, 2017, v. 7, n. 12, p. 1447, doi. 10.5455/njppp.2018.8.0725221072017
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- Article
Genetics Corner: Menkes Disease in an Infant who Presented with Recurrent Infections.
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- 2022
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- Case Study
Mottled Mice and Non-Mammalian Models of Menkes Disease.
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- Frontiers in Molecular Neuroscience, 2015, p. 1, doi. 10.3389/fnmol.2015.00072
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- Article
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.
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- Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00048
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- Article
KINKY HAIR SYNDROME.
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- Acta Paediatrica, 1974, v. 63, n. 2, p. 289, doi. 10.1111/j.1651-2227.1974.tb04799.x
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- Article
Menkes Kinky Hair Disease.
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- Indian Journal of Dermatology, 2012, v. 57, n. 5, p. 407, doi. 10.4103/0019-5154.100503
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- Article
Menkes' kinky hair syndrome.
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- 2005
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- Publication type:
- journal article
Menkes’ kinky hair syndrome.
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- Indian Journal of Pediatrics, 2005, v. 72, n. 10, p. 891, doi. 10.1007/BF02731126
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- Article
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
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- Pediatric Radiology, 2012, v. 42, n. 11, p. 1301, doi. 10.1007/s00247-012-2457-4
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- Article
Long-term skeletal findings in Menkes disease.
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- Pediatric Radiology, 2010, v. 40, n. 8, p. 1426, doi. 10.1007/s00247-010-1551-8
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- Article
MENKES'S KINKY HAIR SYNDROME.
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- Nutrition Reviews, 1973, v. 31, n. 1, p. 17, doi. 10.1111/j.1753-4887.1973.tb05140.x
- Publication type:
- Article
Massive thrombosis in internal jugular phlebectasia in Menkes disease.
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- 2023
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- Case Study
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
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- Pediatrics International, 2019, v. 61, n. 4, p. 345, doi. 10.1111/ped.13817
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- Article
Histopathological Changes and Tissue Copper Concentrations of Menkes' Kinky-hair Syndrome.
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- Pediatrics International, 1980, v. 24, n. 3, p. 380, doi. 10.1111/j.1442-200X.1980.tb00537.x
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- Article
Intestinal Absorption and Copper Infusion Treatment on Menkes Kinky Hair Syndrome.
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- Pediatrics International, 1978, v. 20, n. 1, p. 71, doi. 10.1111/j.1442-200X.1978.tb00119.x
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- Article
Menkes' kinky-hair (steely-hair) syndrome.
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- 1974
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- Publication type:
- journal article
An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly.
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- Journal of Pediatric Neurosciences, 2020, v. 15, n. 1, p. 57, doi. 10.4103/jpn.JPN_141_18
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- Article
Wormian bones and dilated scalp veins in an infant with epilepsy.
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- Journal of Pediatric Neurosciences, 2019, v. 14, n. 2, p. 103, doi. 10.4103/jpn.JPN_151_18
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- Article
Neuroimaging in Menkes Disease.
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- Journal of Pediatric Neurosciences, 2017, v. 12, n. 4, p. 378, doi. 10.4103/jpn.JPN_20_17
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- Article
Menkes disease -- An important cause of early onset refractory seizures.
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- Journal of Pediatric Neurosciences, 2014, v. 9, n. 1, p. 11, doi. 10.4103/1817-1745.131471
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- Article
Reversible temporal lobe edema: An early MRI finding in Menkes disease.
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- 2012
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- Letter
Copper dyshomoeostasis in Parkinson's disease: implications for pathogenesis and indications for novel therapeutics.
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- Clinical Science, 2016, v. 130, n. 8, p. 565, doi. 10.1042/CS20150153
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- Article
Trichoscopy of an Isolated Trichorrhexis Nodosa: A Case Report.
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- Indian Dermatology Online Journal, 2017, v. 8, n. 5, p. 386, doi. 10.4103/idoj.IDOJ_396_16
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- Article
Whisker Hair (Acquired Progressive Kinking of the Hair): An Indication for Finasteride 1 mg?
- Published in:
- 2016
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- Publication type:
- Case Study
Trichonodosis.
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- 2014
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- Publication type:
- Case Study
A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.
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- Clinical Genetics, 2017, v. 92, n. 5, p. 548, doi. 10.1111/cge.13083
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- Publication type:
- Article