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Keyword

alkaptonuria

Description: An inherited metabolic disorder in which homogentisic acid accumulates because of impaired tyrosine breakdown, often causing darkened connective tissues and joint problems.
Wikidata ID: wiki/Q651680
OpenAlex ID: keywords/alkaptonuria
The Incidence of Alkaptonuria : a Study in Chemical Individuality.
1902 · ArchibaldE. Garrod · The Lancet · 794
Natural History of Alkaptonuria
2002 · Chanika Phornphutkul, Wendy J. Introne, et al. · New England Journal of Medicine · 668
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On the Evolution of Biochemical Syntheses
1945 · N. H. Horowitz · Proceedings of the National Academy of Sciences · 610
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Survival Outcomes for Patients with Metastatic Triple-Negative Breast Cancer: Implications for Clinical Practice and Trial Design
2009 · Farrah Kassam, Katherine Enright, et al. · Clinical Breast Cancer · 474
Connective tissue and its heritable disorders : molecular, genetic, and medical aspects
1993 · Peter M. Royce, Beat Steinmann · 440
The Nature of the Defect in Tyrosine Metabolism in Alcaptonuria
1958 · Bert N. La Du, Vincent G. Zannoni, et al. · Journal of Biological Chemistry · 354
The molecular basis of alkaptonuria
1996 · José M. Fernández-Cañón, Begoña Granadino, et al. · Nature Genetics · 329
Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy
1963 · William M. O'brien, Bert N. La Du, et al. · The American Journal of Medicine · 315
Occurrence of tendon pathologies in metabolic disorders
2013 · M. Abate, C. Schiavone, et al. · Lara D. Veeken · 270
A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine
1932 · Grace Medes · Biochemical Journal · 246
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Cutaneous deposition diseases. Part II
1998 · Diane M. Touart, Purnima Sau · Journal of the American Academy of Dermatology · 245
Aetiology of developmental enamel defects not related to fluorosis.
1982 · J J Pindborg · PubMed · 237
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
2011 · Wendy J. Introne, Monique B. Perry, et al. · Molecular Genetics and Metabolism · 204
Use of nitisinone in patients with alkaptonuria
2005 · Pim Suwannarat, Kevin O'Brien, et al. · Metabolism · 163
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Recent advances in management of alkaptonuria (invited review; best practice article)
2013 · Lakshminarayan R Ranganath, Jonathan C Jarvis, et al. · Journal of Clinical Pathology · 156
The Incidence of Alkaptonuria: A study in Chemical Individuality
1996 · Archibald E. Garrod · Molecular Medicine · 156
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Crystal structure of human homogentisate dioxygenase.
2000 · David E. Timm, Greg P. Titus, et al. · Nature Structural Biology · 153
Alkaptonuria – a review of surgical and autopsy pathology
2008 · T R Helliwell, J A Gallagher, et al. · Histopathology · 142
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
1993 · Martin R. Pollak, Yah-Huei Wu Chou, et al. · Nature Genetics · 142
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis
1996 · I. Matsumoto, T. Kuhara · Mass Spectrometry Reviews · 140
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Heritable Disorders of Connective Tissue.
1967 · JOSEF WARKANY · Archives of Pediatrics and Adolescent Medicine · 136
Molecular Characterization of a Gene Encoding a Homogentisate Dioxygenase from Aspergillus nidulans and Identification of Its Human and Plant Homologues
1995 · José M. Fernández-Cañón, Miguel A. Peñalva · Journal of Biological Chemistry · 135
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Crystal Structure of Maleylacetoacetate Isomerase/Glutathione Transferase Zeta Reveals the Molecular Basis for Its Remarkable Catalytic Promiscuity ,
2001 · Galina Polekhina, Philip G. Board, et al. · Biochemistry · 134
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
2020 · Lakshminarayan R Ranganath, Eftychia Eirini Psarelli, et al. · The Lancet Diabetes & Endocrinology · 129
Oxidation of homogentisic acid to ochronotic pigment in connective tissue
1969 · V.G. Zannoni, N. Lomtevas, et al. · Biochimica et Biophysica Acta (BBA) - General Subjects · 127
Works count: 2,642
Citation count: 26,490
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