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Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome.
- Published in:
- Pediatric & Developmental Pathology, 1998, v. 1, n. 1, p. 85, doi. 10.1007/s100249900011
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- Publication type:
- Article
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008143
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- Publication type:
- Article
Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 5, p. 1, doi. 10.1002/mgg3.2436
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- Publication type:
- Article
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1364, doi. 10.1002/ajmg.a.61572
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- Publication type:
- Article
Menkes disease with discordant phenotype in female monozygotic twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2826, doi. 10.1002/ajmg.a.37276
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- Publication type:
- Article
Introduction to Human Disorders of Copper Metabolism.
- Published in:
- Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. v, doi. 10.1111/nyas.12448
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- Publication type:
- Article
In Memoriam: H. Ascher Sellner, M.D.
- Published in:
- Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. iv, doi. 10.1111/nyas.12449
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- Publication type:
- Article
Translational research investigations on ATP7A: an important human copper ATPase.
- Published in:
- Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 64, doi. 10.1111/nyas.12422
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- Publication type:
- Article
Diseases of Poverty with High Mortality in Infants and Children.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1136, p. 28, doi. 10.1196/annals.1425.035
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- Publication type:
- Article
Preface.
- Published in:
- 2008
- By:
- Publication type:
- Other
Prenatal diagnosis of Menkes disease.
- Published in:
- 1998
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- Publication type:
- journal article
Preface.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1038, n. 1, p. xi, doi. 10.1196/annals.1315.041
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- Publication type:
- Article
Genomic organization of ATOX1, a human copper chaperone.
- Published in:
- BMC Genetics, 2003, v. 4, p. 4, doi. 10.1186/1471-2156-4-4
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- Publication type:
- Article
Microbial peptide de-coppers mitochondria: implications for Wilson disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease.
- Published in:
- Neurochemical Research, 2009, v. 34, n. 8, p. 1, doi. 10.1007/s11064-009-9933-8
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- Publication type:
- Article
L-Threo-Dihydroxyphenylserine corrects neurochemical abnormalities in a menkes disease mouse model.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 2, p. 259, doi. 10.1002/ana.23787
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- Publication type:
- Article
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 1, p. 108, doi. 10.1002/ana.21576
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- Publication type:
- Article
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4121, doi. 10.1093/hmg/ddac156
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- Publication type:
- Article
Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2411, doi. 10.1093/hmg/ddv002
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- Publication type:
- Article
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1794, doi. 10.1093/hmg/ddr612
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- Publication type:
- Article
ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse Model.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 12, p. 2114, doi. 10.1038/mt.2011.143
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- Publication type:
- Article
Erratum to: Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-Mediated Copper Transport to the Developing Brain.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2044, doi. 10.1002/ajmg.a.34065
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- Publication type:
- Article
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099
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- Publication type:
- Article
Expanding the clinical phenotype of FGFR1 internal tandem duplication.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006174
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- Publication type:
- Article
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005306
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- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 1, p. 134, doi. 10.1002/ana.410410126
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- Publication type:
- Article
Early copper therapy in classic Menkes disease patients with a novel splicing mutation.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 6, p. 921, doi. 10.1002/ana.410380613
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- Publication type:
- Article
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.
- Published in:
- Annals of Neurology, 1993, v. 33, n. 2, p. 171, doi. 10.1002/ana.410330206
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- Publication type:
- Article
Catecholamine Phenotyping: Clues to the Diagnosis, Treatment, and Pathophysiology of Neurogenetic Disorders.
- Published in:
- Journal of Neurochemistry, 1996, v. 67, n. 5, p. 1781, doi. 10.1046/j.1471-4159.1996.67051781.x
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- Publication type:
- Article
Metacarpophalangeal pattern profile analysis in Prader-WiIIi syndrome.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 6, p. 315, doi. 10.1111/j.1399-0004.1982.tb01846.x
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- Publication type:
- Article