Works matching DE "KINKY hair syndrome"
Results: 84
MENKES DISEASE.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Novel <em>ATP7A </em>gene mutation in a patient with Menkes disease.
- Published in:
- Application of Clinical Genetics, 2018, v. 11, p. 151, doi. 10.2147/TACG.S180087
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- Publication type:
- Article
Human Macrophage ATP7A is Localized in the trans-Golgi Apparatus, Controls Intracellular Copper Levels, and Mediates Macrophage Responses to Dermal Wounds.
- Published in:
- Inflammation, 2012, v. 35, n. 1, p. 167, doi. 10.1007/s10753-011-9302-z
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- Publication type:
- Article
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.
- Published in:
- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00068
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- Publication type:
- Article
Lethal neonatal Menkes' disease with severe vasculopathy and fractures.
- Published in:
- 1998
- By:
- Publication type:
- journal article
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
- Published in:
- Cellular & Molecular Life Sciences, 2012, v. 69, n. 1, p. 149, doi. 10.1007/s00018-011-0743-1
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- Publication type:
- Article
Structural biology: A platform for copper pumps.
- Published in:
- Nature, 2011, v. 475, n. 7354, p. 41, doi. 10.1038/475041a
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- Publication type:
- Article
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
- Published in:
- Journal of Neuroimaging, 2011, v. 21, n. 2, p. e114, doi. 10.1111/j.1552-6569.2010.00476.x
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- Publication type:
- Article
Eyelash involvement in acquired progressive kinking of the hair.
- Published in:
- Clinical & Experimental Dermatology, 2012, v. 37, n. 5, p. 562, doi. 10.1111/j.1365-2230.2011.04243.x
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- Publication type:
- Article
Menkes Disease- A Rare Neurodegenerative Disorder.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Therapeutic Use of Trace Elements in Dermatology.
- Published in:
- Alternative Therapies in Health & Medicine, 2023, v. 29, n. 4, p. 246
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- Publication type:
- Article
De Novo Mutation in ATP7A Gene with Severe Menkes Disease.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Menkes disease and response to copper histidine: An Indian case series.
- Published in:
- Annals of Indian Academy of Neurology, 2017, v. 20, n. 1, p. 62, doi. 10.4103/0972-2327.199907
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- Publication type:
- Article
Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.
- Published in:
- Applied Microscopy, 2021, v. 51, n. 1, p. 1, doi. 10.1186/s42649-021-00067-6
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- Publication type:
- Article
Menkes disease -- A rare case report.
- Published in:
- National Journal of Physiology, Pharmacy & Pharmacology, 2017, v. 7, n. 12, p. 1447, doi. 10.5455/njppp.2018.8.0725221072017
- By:
- Publication type:
- Article
Genetics Corner: Menkes Disease in an Infant who Presented with Recurrent Infections.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Mottled Mice and Non-Mammalian Models of Menkes Disease.
- Published in:
- Frontiers in Molecular Neuroscience, 2015, p. 1, doi. 10.3389/fnmol.2015.00072
- By:
- Publication type:
- Article
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.
- Published in:
- Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00048
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- Publication type:
- Article
Menkes Kinky Hair Disease.
- Published in:
- Indian Journal of Dermatology, 2012, v. 57, n. 5, p. 407, doi. 10.4103/0019-5154.100503
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- Publication type:
- Article
Enfermedad de Menkes.
- Published in:
- MedUNAB, 2010, v. 13, n. 3, p. 169
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- Publication type:
- Article
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
- Published in:
- Pediatric Radiology, 2012, v. 42, n. 11, p. 1301, doi. 10.1007/s00247-012-2457-4
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- Publication type:
- 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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- Publication type:
- Article
Massive thrombosis in internal jugular phlebectasia in Menkes disease.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
- Published in:
- Pediatrics International, 2019, v. 61, n. 4, p. 345, doi. 10.1111/ped.13817
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- Publication type:
- 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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- Publication type:
- Article
An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 1, p. 57, doi. 10.4103/jpn.JPN_141_18
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- Publication type:
- Article
Wormian bones and dilated scalp veins in an infant with epilepsy.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 2, p. 103, doi. 10.4103/jpn.JPN_151_18
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- Publication type:
- Article
Neuroimaging in Menkes Disease.
- Published in:
- Journal of Pediatric Neurosciences, 2017, v. 12, n. 4, p. 378, doi. 10.4103/jpn.JPN_20_17
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- Publication type:
- Article
Menkes disease -- An important cause of early onset refractory seizures.
- Published in:
- Journal of Pediatric Neurosciences, 2014, v. 9, n. 1, p. 11, doi. 10.4103/1817-1745.131471
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- Publication type:
- Article
Reversible temporal lobe edema: An early MRI finding in Menkes disease.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Copper dyshomoeostasis in Parkinson's disease: implications for pathogenesis and indications for novel therapeutics.
- Published in:
- Clinical Science, 2016, v. 130, n. 8, p. 565, doi. 10.1042/CS20150153
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- Publication type:
- Article
Trichoscopy of an Isolated Trichorrhexis Nodosa: A Case Report.
- Published in:
- Indian Dermatology Online Journal, 2017, v. 8, n. 5, p. 386, doi. 10.4103/idoj.IDOJ_396_16
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- Publication type:
- Article
Whisker Hair (Acquired Progressive Kinking of the Hair): An Indication for Finasteride 1 mg?
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Trichonodosis.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Neurodegenerative Disorders with Hair Abnormalities: An Emergency Room Consultation for Dermatologists.
- Published in:
- International Journal of Trichology, 2009, v. 1, n. 1, p. 30, doi. 10.4103/0974-7753.51929
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- Publication type:
- Article
A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 5, p. 548, doi. 10.1111/cge.13083
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- Publication type:
- Article
Twenty-five novel mutations including duplications in the ATP7A gene.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 243, doi. 10.1111/j.1399-0004.2010.01461.x
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- Publication type:
- Article
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 2, p. 176, doi. 10.1111/j.1399-0004.2010.01451.x
- By:
- Publication type:
- Article
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 517, doi. 10.1038/ejhg.2013.191
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- Publication type:
- Article
Clinical utility gene card for: Menkes disease.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.56
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- Publication type:
- Article
Menkes disease.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 511, doi. 10.1038/ejhg.2009.187
- By:
- Publication type:
- Article
Epilepsy in Children With Menkes Disease: A Systematic Review of Literature.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 12, p. 1757, doi. 10.1177/0883073814541469
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- Publication type:
- Article
Occipital horn syndrome in a woman: skeletal radiological findings.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Choroba Menkesa - opis przypadku.
- Published in:
- Modern Nursing & Health Care / Wspolczesne Pielegniarstwo i Ochrona Zdrowia, 2021, v. 10, n. 1-4, p. 18
- By:
- Publication type:
- Article
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?
- Published in:
- Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/358605
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- Publication type:
- Article
Menkes Disease Presenting with Epilepsia Partialis Continua.
- Published in:
- Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/525784
- By:
- Publication type:
- Article
Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy.
- Published in:
- 2004
- By:
- Publication type:
- journal article
The role of insufficient copper in lipid synthesis and fatty-liver disease.
- Published in:
- IUBMB Life, 2017, v. 69, n. 4, p. 263, doi. 10.1002/iub.1613
- By:
- Publication type:
- Article
Image of the Month: Answer.
- Published in:
- 2014
- Publication type:
- Other
Design and synthesis of a fluorescent probe based on naphthalene anhydride and its detection of copper ions.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186994
- By:
- Publication type:
- Article