Results 111 to 120 of about 4,051 (207)
Making rareness count: testing and pricing orphan drugs [PDF]
, 2016 This paper examines the testing and the pricing of orphan drugs, e.g. drugs for patients suffering from rare diseases. Due to the small size of these populations, orphan molecules question established evidentiary practices, namely randomized controlled ...
Doganova, Liliana, Rabeharisoa, Vololona
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Tracing the shifting sands of ‘medical genetics’: what’s in a name? [PDF]
, 2010 This paper focuses on the structural development of institution-based interest in genetics in Anglo-North American medicine after 1930 concomitantly with an analysis of the changes through which ideas about heredity and the hereditary transmission of ...
Leeming, William
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JIMD Reports, 2020 Background Alkaptonuria (AKU) is a disorder of tyrosine/protein metabolism leading to accumulation of homogentisic acid. Clinical management historically recommended reducing dietary protein intake, especially in childhood, which has since been ...
Shirley Judd +8 more
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Genome-wide transcriptomics of aging in the rotifer Brachionus manjavacas, an emerging model system [PDF]
, 2017 © The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in BMC Genomics 18 (2017): 217, doi:10.1186/s12864-017-3540-x.Understanding gene expression changes over ...
Gribble, Kristin E. +1 more
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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations [PDF]
, 2012 Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and genetic diversity in large human populations. Yet
Dumas, ME +3 more
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Indian journal of dermatology, venereology and leprology, 2007 A case of alkaptonuria, a rare autosomal recessive metabolic disorder is being reported. The patient presented with passage of dark coloured urine, cutaneous and scleral pigmentation and joint pains. The diagnosis was confirmed by the detection of homogentisic acid in the urine.
A, Dogra +3 more
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Combined alkaptonuria and osteoporosis contributing to chronic back pain
Endocrinology, Diabetes & Metabolism Case ReportsAlkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency in homogentisate 1,2-dioxygenase (HGD), leading to the accumulation of homogentisic acid (HGA) in connective tissues, cartilage, and bones.
Anna Riegler, Gurpreet Anand
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Age related deviation of gait from normality in alkaptonuria. [PDF]
Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. Due to unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and ...
Barton, GJ +4 more
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Practical book on medical biology [PDF]
, 2006 BIOLOGY MEDICALPRACTICAL BOOKБИОЛОГИЯБИОЛОГИЯ МЕДИЦИНСКАЯПРАКТИЧЕСКИЕ ПОСОБИЯIn the practical book the main divisions and aims of biology are ...
Bekish, V. J., Nikulin, Y. T.
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Treatment modalities for hyperpigmented skin lesions: A brief overview [PDF]
, 2016 Skin hyperpigmentation involves a broad range of skin conditions, including epidermal pigmented lesions, dermal pigmented lesions, and mixed pigmented lesions.
Halim, Ahmad Sukari, Yan, Teng Khoo
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