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Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease

Autor: D Ravine, Priscilla Kincaid-Smith, Robert N Gibson, D. M. Danks, Leslie J. Sheffield, Rowan G. Walker

Publikováno v: The Lancet. 337:127-129

In a study to determine the proportion of unrecognised cases and the prevalence of treatable complications of autosomal dominant polycystic kidney disease (ADPKD), 46 probands were identified through genetics and renal clinics in Melbourne, Australia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6907b0fb19fe2b01f40584e4237e90f0
https://doi.org/10.1016/0140-6736(91)90797-s

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DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Autor: K, Takayama, D M, Danks, E P, Salazar, J E, Cleaver, C A, Weber

Publikováno v: Human mutation. 9(6)

Patient TTD183ME is male and has typical trichothiodystrophy characteristics, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7f684da63b4ac6c163ac8054e081e0b4
https://pubmed.ncbi.nlm.nih.gov/9195225

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Copper: Wilson and Menkes Diseases

Autor: D. M. Danks

Publikováno v: Inborn Metabolic Diseases ISBN: 9783662031490

Wilson and Menkes diseases epitomise the fundamental biological problem of the transport and utilisation of copper in the human body — coping with an element which is essential, but toxic. We must have evolved very efficient systems for transportin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::34b9c2a952492493be696cdfd078fc95
https://doi.org/10.1007/978-3-662-03147-6_28

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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

Autor: Robert I. Richards, SM Forrest, K Friend, Priscilla Kincaid-Smith, D Ravine, Rowan G. Walker, Robert N Gibson, Leslie J. Sheffield, D. M. Danks

Publikováno v: Lancet (London, England). 340(8831)

It is now clear that mutations of at least two genetic loci can lead to autosomal dominant polycystic kidney disease (ADPKD). We have compared the clinical features of ADPKD caused by mutations at the PKD1 locus (linked to the alpha-globin complex on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5492ced841d5be8e30ac0d2f93d05370
https://pubmed.ncbi.nlm.nih.gov/1360045

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