A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.

Autor: Vanhove T; Clinical Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium., Aertgeerts M; Department of Paediatric Nephrology, UZ Leuven, Leuven, Belgium.; Department of Oncology, KU Leuven, Leuven, Belgium., Witters P; Centre for Metabolic Diseases, Department of Pediatrics, UZ Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Rymen D; Centre for Metabolic Diseases, Department of Pediatrics, UZ Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Böckenhauer D; Department of Paediatric Nephrology, UZ Leuven, Leuven, Belgium.; Department of Cellular and Molecular Physiology, KU Leuven, Leuven, Belgium., Frans G; Clinical Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.; Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Vermeersch P; Clinical Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.

Publikováno v: Biochemia medica [Biochem Med (Zagreb)] 2024 Oct 15; Vol. 34 (3), pp. 031002.

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.

Autor: Spears KR; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Rossignol F; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Perry MB; Rehabilitation Medicine Department, NIH Clinical Center, United States., Kayser MA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Suwannarat P; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., O'Brien KE; Office of the Clinical Director, NHGRI, United States., Bryant JC; Office of the Clinical Director, NHGRI, United States., Greenwood WF; Cycle Pharmaceuticals Limited, United Kingdom., Fuller S; Cycle Pharmaceuticals Limited, United Kingdom., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States. Electronic address: wintrone@mail.nih.gov.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108562. Date of Electronic Publication: 2024 Aug 03.

Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report.

Autor: Cifuentes-González C; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia., Rojas-Carabali W; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia., Sierra-Cote MC; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia., de-la-Torre A; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.

Publikováno v: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2024 Jul; Vol. 32 (5), pp. 758-762. Date of Electronic Publication: 2023 Feb 23.

Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria.

Autor: Norman BP; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Sutherland H; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; School of Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK., Wilson PJM; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Rutland DA; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Milan AM; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Hughes AT; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Davison AS; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Khedr M; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Jarvis JC; School of Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK., Gallagher JA; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Bou-Gharios G; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Ranganath LR; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 664-673. Date of Electronic Publication: 2024 Mar 15.

Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform.

Autor: Milella MS; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Geminiani M; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; SienabioACTIVE-SbA, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Trezza A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Visibelli A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Braconi D; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Santucci A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; SienabioACTIVE-SbA, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; ARTES 4.0, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.

Publikováno v: Cells [Cells] 2024 Jun 20; Vol. 13 (12). Date of Electronic Publication: 2024 Jun 20.