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
- By:
- Publication type:
- Article
Structural biology: A platform for copper pumps.
- Published in:
- Nature, 2011, v. 475, n. 7354, p. 41, doi. 10.1038/475041a
- 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
- By:
- 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
Canine Models for Copper Homeostasis Disorders.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 196, doi. 10.3390/ijms17020196
- By:
- 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
- By:
- Publication type:
- Article
Clinical expression of Menkes disease in females with normal karyotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 6, doi. 10.1186/1750-1172-7-6
- 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
- By:
- 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.
- Published in:
- Egyptian Academic Journal of Biological Sciences E Medical Entomology & Parasitology, 2018, v. 10, n. 1, p. 63, doi. 10.21608/eajbse.2018.14461
- 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
MENKES DISEASE.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease.
- Published in:
- Turkish Journal of Hematology, 2019, v. 36, n. 3, p. 203, doi. 10.4274/tjh.galenos.2018.2018.0104
- By:
- Publication type:
- Article
Occipital horn syndrome in a woman: skeletal radiological findings.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington's Disease.
- Published in:
- Cerebellum, 2015, v. 14, n. 6, p. 707, doi. 10.1007/s12311-015-0678-4
- By:
- 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
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
- 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
- By:
- 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
- By:
- 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
Estado actual de la enfermedad de Menkes en México.
- Published in:
- Salud Pública de México, 2012, v. 54, n. 2, p. 103
- By:
- Publication type:
- Article
Lethal neonatal Menkes' disease with severe vasculopathy and fractures.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Enfermedad de Menkes.
- Published in:
- MedUNAB, 2010, v. 13, n. 3, p. 169
- By:
- Publication type:
- Article
Menkes disease: what a multidisciplinary approach can do.
- Published in:
- Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 371, doi. 10.2147/JMDH.S93454
- By:
- 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
- By:
- 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
- By:
- 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
Genetics Corner: Menkes Disease in an Infant who Presented with Recurrent Infections.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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
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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Reversible temporal lobe edema: An early MRI finding in Menkes disease.
- Published in:
- 2012
- By:
- Publication type:
- Letter
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease.
- Published in:
- Case Reports in Radiology, 2012, p. 1, doi. 10.1155/2012/684309
- By:
- 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
- By:
- Publication type:
- Article
Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 3, p. 135, doi. 10.4274/tnd.galenos.2019.82608
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040400
- By:
- Publication type:
- Article
Splice Site Mutations in the ATP7A Gene.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018599
- By:
- Publication type:
- Article
De Novo Mutation in ATP7A Gene with Severe Menkes Disease.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article