Works matching DE "KINKY hair syndrome"
Results: 84
Research highlights.
- Published in:
- Nature Structural & Molecular Biology, 2011, v. 18, n. 8, p. 866, doi. 10.1038/nsmb0811-866
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- Publication type:
- Article
Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice.
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- Biological Trace Element Research, 2010, v. 136, n. 2, p. 204, doi. 10.1007/s12011-009-8533-4
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- Publication type:
- Article
Medical Updates.
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- Palaestra, 2009, v. 24, n. 4, p. 49
- Publication type:
- Article
Survey the Prevalence Level of Congenital Hypothyroidism Kinds (Transient and Permanent) and its Related Factors in Children of Kurdistan Provinces in 2005 to 2011.
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- Egyptian Academic Journal of Biological Sciences E Medical Entomology & Parasitology, 2018, v. 10, n. 1, p. 63, doi. 10.21608/eajbse.2018.14461
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- Publication type:
- Article
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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- Publication type:
- Article
Biometals in rare neurodegenerative disorders of childhood.
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- Frontiers in Aging Neuroscience, 2013, p. 1, doi. 10.3389/fnagi.2013.00014
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- Publication type:
- Article
De Novo Mutation in ATP7A Gene with Severe Menkes Disease.
- Published in:
- 2018
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- Publication type:
- Case Study
In vitro toxicology and alternative testing. Sodium arsenite enhances copper accumulation in human lung adenocarcinoma cells.
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- Toxicological Sciences, 1999, v. 47, n. 2, p. 176
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- Publication type:
- Article
Choroba Menkesa - opis przypadku.
- Published in:
- Modern Nursing & Health Care / Wspolczesne Pielegniarstwo i Ochrona Zdrowia, 2021, v. 10, n. 1-4, p. 18
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- Publication type:
- Article
Image of the Month: Answer.
- Published in:
- 2014
- Publication type:
- Other
Occipital horn syndrome in a woman: skeletal radiological findings.
- Published in:
- 2011
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- Publication type:
- journal 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
Pediatric Dermatology Photoquiz: A 14-Year-Old Boy with Abrupt-Onset Hair Changes.
- Published in:
- Pediatric Dermatology, 2017, v. 34, n. 5, p. 617, doi. 10.1111/pde.13243
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- Publication type:
- Article
Menkes Disease Mimicking Child Abuse.
- Published in:
- Pediatric Dermatology, 2017, v. 34, n. 3, p. e132, doi. 10.1111/pde.13106
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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
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- Publication type:
- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0147-5
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- Publication type:
- 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
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- Publication type:
- Article
Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 3, p. 135, doi. 10.4274/tnd.galenos.2019.82608
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- Publication type:
- Article
Menkes Disease- A Rare Neurodegenerative Disorder.
- Published in:
- 2015
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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.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 5, p. 548, doi. 10.1111/cge.13083
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- Publication type:
- Article
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
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- 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.
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- 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.
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 511, doi. 10.1038/ejhg.2009.187
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- Publication type:
- Article
Design and synthesis of a fluorescent probe based on naphthalene anhydride and its detection of copper ions.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186994
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- Publication type:
- Article
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
Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review.
- Published in:
- 2010
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- Publication type:
- Case Study
Ethylene Captures a Metal! Metal Ions Are Involved in Ethylene Perception and Signal Transduction.
- Published in:
- Plant & Cell Physiology, 2000, v. 41, n. 5, p. 548, doi. 10.1093/pcp/41.5.548
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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
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1123, doi. 10.1007/s11011-017-9985-4
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- Publication type:
- Article
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1173, doi. 10.1007/s11011-017-0010-8
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- Publication type:
- Article
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
- Published in:
- Metabolic Brain Disease, 2015, v. 30, n. 1, p. 75, doi. 10.1007/s11011-014-9569-5
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- Publication type:
- 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
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
Limbic system pathologies associated with deficiencies and excesses of the trace elements iron, zinc, copper, and selenium.
- Published in:
- Nutrition Reviews, 2012, v. 70, n. 12, p. 679, doi. 10.1111/j.1753-4887.2012.00521.x
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- Publication type:
- 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.
- 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
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
Mottled Mice and Non-Mammalian Models of Menkes Disease.
- Published in:
- Frontiers in Molecular Neuroscience, 2015, p. 1, doi. 10.3389/fnmol.2015.00072
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- 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
Canine Models for Copper Homeostasis Disorders.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 196, doi. 10.3390/ijms17020196
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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.
- Published in:
- 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
Menkes disease: what a multidisciplinary approach can do.
- Published in:
- Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 371, doi. 10.2147/JMDH.S93454
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- Publication type:
- Article
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
BOALA MENKES, FORMA INCOMPLETĂ. PREZENTARE DE CAZ.
- Published in:
- Clujul Medical, 2011, v. 84, n. 4, p. 612
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- Publication type:
- Article
Haemolysis and Perturbations in the Systemic Iron Metabolism of Suckling, Copper-Deficient Mosaic Mutant Mice – An Animal Model of Menkes Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107641
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- Publication type:
- Article
Conditional Knockout of the Menkes Disease Copper Transporter Demonstrates Its Critical Role in Embryogenesis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043039
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- Publication type:
- Article