Works matching Menkes syndrome
Results: 89
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
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- 2023
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- Publication type:
- Case Study
Menke–Hennekam Syndrome: A Literature Review and a New Case Report.
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- Children, 2022, v. 9, n. 5, p. 759, doi. 10.3390/children9050759
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- Article
Urological complications and copper replacement therapy in childhood Menkes syndrome.
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- Acta Paediatrica, 2006, v. 95, n. 7, p. 785, doi. 10.1080/08035250500538957
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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
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
Progressive Sliding Hiatal Hernia as a Complication of Menkes' Syndrome.
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- Journal of Child Neurology, 2002, v. 17, n. 5, p. 401, doi. 10.1177/088307380201700521
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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
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
Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome.
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- Pediatric & Developmental Pathology, 1998, v. 1, n. 1, p. 85, doi. 10.1007/s100249900011
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- Article
An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome.
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- Human Mutation, 2013, v. 34, n. 3, p. 417, doi. 10.1002/humu.22266
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- Article
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 446, doi. 10.1002/ajmg.a.62533
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- Article
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1058, doi. 10.1002/ajmg.a.61131
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- Article
A case of Menkes' syndrome associated with deafness and inferior cerebellar vermian hypoplasia.
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- 1997
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- Publication type:
- 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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- Publication type:
- Article
Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome.
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- Case Reports in Pediatrics, 2021, p. 1, doi. 10.1155/2021/4398456
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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
A case of Menkes syndrome with pyloric stenosis: An effect of copper deficiency on NOS1?
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 197, doi. 10.1023/A:1005487027838
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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
MENKE'S SYNDROME AND WILSON'S DISEASE.
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- Medical Journal of Australia, 1980, v. 1, n. 11, p. 444, doi. 10.5694/j.1326-5377.1980.tb135018.x
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- 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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- Article
Síndrome de Menkes.
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- Boletín Médico del Hospital Infantil de México, 2002, v. 59, n. 6, p. 365
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- 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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- Article
Clinical expression of Menkes syndrome in females.
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- Clinical Genetics, 1990, v. 38, n. 6, p. 452, doi. 10.1111/j.1399-0004.1990.tb03612.x
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- Article
Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease.
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- Clinical Genetics, 1988, v. 33, n. 3, p. 228, doi. 10.1111/j.1399-0004.1988.tb03441.x
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- Article
Is Menkes syndrome a copper storage disorder?
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- Clinical Genetics, 1978, v. 14, n. 3, p. 186, doi. 10.1111/j.1399-0004.1978.tb02128.x
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- Article
Anaesthetic considerations in the child with Menkes' syndrome.
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- 1992
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- Publication type:
- journal article
Menkes Syndrome: Subcellular Distribution of Copper Determined by an Ultrastructural Histochemical Technique.
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- Ultrastructural Pathology, 1980, v. 1, n. 2, p. 237, doi. 10.3109/01913128009141420
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- Article
Menkes' Syndrome (Trichopoliodystrophy): Use of Scanning Electron-microscope in Diagnosis and Carrier Identification.
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- Developmental Medicine & Child Neurology, 1981, v. 23, n. 4, p. 361, doi. 10.1111/j.1469-8749.1981.tb02001.x
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- Publication type:
- Article
Menkes' Syndrome (Trichopoliodystrophy): Use of Scanning Electron-microscope in Diagnosis and Carrier Identification.
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- Developmental Medicine & Child Neurology, 1981, v. 23, n. 3, p. 361, doi. 10.1111/j.1469-8749.1981.tb02468.x
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- Article
The History of John Hans Menkes and Kinky Hair Syndrome.
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- 2017
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- Publication type:
- journal article
Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations.
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- Journal of Child Neurology, 2007, v. 22, n. 4, p. 452, doi. 10.1177/0883073807301931
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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
El metabolismo del cobre. Sus consecuencias para la salud humana.
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- MediSur, 2018, v. 16, n. 4, p. 579
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- Article
İkincil Optik Atrofi ile İlişkili Diğer Kalıtsal Sendromlar.
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- Current Retina Journal / Güncel Retina Dergisi, 2022, v. 6, n. 2, p. 113
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- Article
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
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- Genes, 2019, v. 10, n. 7, p. 528, doi. 10.3390/genes10070528
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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
Decreased activity of cytochrome c oxidase in the macular mottled mouse: an immuno-electron microscopic study.
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- Acta Neuropathologica, 1989, v. 77, n. 5, p. 465, doi. 10.1007/BF00687247
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- Publication type:
- Article
Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.
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- Current Journal of Neurology, 2020, v. 19, n. 4, p. 200
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- Article
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
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- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1173, doi. 10.1007/s11011-017-0010-8
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- Article
Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period.
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- Pediatric & Developmental Pathology, 2014, v. 17, n. 1, p. 36, doi. 10.2350/13-09-1375-OA.1
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- Article
Hipomelanozy przekazywane z pokolenia na pokolenie.
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- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2014, v. 68, p. 1081
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- Article
Molecular genetics and pathophysiology of Menkes disease.
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- Pediatrics International, 1999, v. 41, n. 4, p. 430, doi. 10.1046/j.1442-200X.1999.01091.x
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- Publication type:
- Article
Clinical manifestations and treatment of Menkes disease and its variants.
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- Pediatrics International, 1999, v. 41, n. 4, p. 423, doi. 10.1046/j.1442-200X.1999.01095.x
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- Publication type:
- Article
Menkes Disease: Recent Advances and New Insights into Copper Metabolism.
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- Annals of Medicine, 1996, v. 28, n. 2, p. 121, doi. 10.3109/07853899609092936
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- Article
A child with kinky hair.
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- Canadian Medical Association Journal (CMAJ), 2002, v. 166, n. 11, p. 1442
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- Article
Neuropathology of Occipital Horn Syndrome.
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- Journal of Child Neurology, 2001, v. 16, n. 10, p. 764, doi. 10.1177/088307380101601011
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- Publication type:
- Article