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1دورية أكاديميةHGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.
المؤلفون: Mastroeni P; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Trezza A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Geminiani M; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Frusciante L; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Visibelli A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Santucci A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy.; MetabERN, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy.
المصدر: Cells [Cells] 2024 Sep 07; Vol. 13 (17). Date of Electronic Publication: 2024 Sep 07.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/metabolism , Alkaptonuria*/pathology , Serum Amyloid A Protein*/metabolism , Serum Amyloid A Protein*/genetics , Homogentisic Acid*/metabolism, Humans ; Protein Aggregates ; Amyloidosis/metabolism ; Amyloidosis/pathology ; Amyloid/metabolism ; Models, Biological ; Homogentisate 1,2-Dioxygenase/metabolism ; Homogentisate 1,2-Dioxygenase/genetics
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2دورية أكاديميةSclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report.
المؤلفون: 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.
المصدر: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2024 Jul; Vol. 32 (5), pp. 758-762. Date of Electronic Publication: 2023 Feb 23.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9312169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5078 (Electronic) Linking ISSN: 09273948 NLM ISO Abbreviation: Ocul Immunol Inflamm Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/diagnosis , Alkaptonuria*/complications , Scleritis*/diagnosis , Scleritis*/etiology , Scleritis*/drug therapy , Sjogren's Syndrome*/diagnosis , Sjogren's Syndrome*/complications, Humans ; Female ; Aged ; Hashimoto Disease/diagnosis ; Hashimoto Disease/complications ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/complications
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3دورية أكاديمية
المؤلفون: Ranganath LR; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK.; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool L7 8TX, UK., Khedr M; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Milan AM; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Davison AS; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Hughes AT; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Norman BP; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool L7 8TX, UK., Bygott H; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Luangrath E; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Judd S; Department of Nutrition & Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Soulsby C; Department of Nutrition & Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Olsson B; Garriguella AB, 179 62 Ekerö, Sweden., Imrich R; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, 84104 Bratislava, Slovakia.; Faculty of Medicine of Comenius University, 81372 Bratislava, Slovakia.
المصدر: Nutrients [Nutrients] 2024 Aug 15; Vol. 16 (16). Date of Electronic Publication: 2024 Aug 15.
نوع المنشور: Journal Article; Randomized Controlled Trial
بيانات الدورية: Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6643 (Electronic) Linking ISSN: 20726643 NLM ISO Abbreviation: Nutrients Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria* , Body Composition*/drug effects , Nitrobenzoates* , Cyclohexanones*, Humans ; Male ; Female ; Middle Aged ; Aged ; Tyrosine/blood ; Tyrosine/analogs & derivatives ; Adult ; Prospective Studies ; Body Mass Index ; Nutritional Status ; Phenylalanine/blood ; Anthropometry ; Homogentisic Acid/urine ; Hand Strength
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4دورية أكاديمية
المؤلفون: 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.
المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 664-673. Date of Electronic Publication: 2024 Mar 15.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/urine , Alkaptonuria*/metabolism , Homogentisic Acid*/urine , Homogentisic Acid*/metabolism , Disease Models, Animal* , Nitrobenzoates* , Cyclohexanones*/urine, Animals ; Mice ; Male ; Tyrosine/metabolism ; Tyrosine/urine ; Liver/metabolism ; Phenylalanine/metabolism
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5دورية أكاديمية
المؤلفون: Broekx S; Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium. Electronic address: senne.broekx@gmail.com., Peuskens D; Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
المصدر: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Jul; Vol. 242, pp. 108349. Date of Electronic Publication: 2024 May 22.
نوع المنشور: Journal Article; Case Reports; Review
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6968 (Electronic) Linking ISSN: 03038467 NLM ISO Abbreviation: Clin Neurol Neurosurg Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/complications , Cervical Vertebrae*/surgery , Cervical Vertebrae*/diagnostic imaging , Intervertebral Disc*/diagnostic imaging , Intervertebral Disc*/pathology , Intervertebral Disc*/surgery , Ochronosis*/complications, Humans ; Middle Aged ; Diskectomy/methods ; Spinal Fusion/methods ; Spinal Stenosis/surgery ; Spinal Stenosis/diagnostic imaging
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6دورية أكاديمية
المؤلفون: 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.
المصدر: Cells [Cells] 2024 Jun 20; Vol. 13 (12). Date of Electronic Publication: 2024 Jun 20.
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/metabolism , Alkaptonuria*/genetics , Oxidative Stress*, Humans ; Homogentisic Acid/metabolism ; Inflammation/pathology ; Inflammation/metabolism ; Animals
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7دورية أكاديمية
المؤلفون: Bhatti IA; Shifa International Hospital, Islamabad, Pakistan., Saqib M; Shifa International Hospital, Islamabad, Pakistan., Rehman IU; Shifa International Hospital, Islamabad, Pakistan., Amjed S; Shifa International Hospital, Islamabad, Pakistan., Hashim HT; University of Warith Al-Anbiyaa, College of Medicine, Karbala, Iraq sondur.suhas@gmail.com hashim.h.t.h@gmail.com., Butt AA; Shifa International Hospital, Islamabad, Pakistan.
المصدر: Clinical medicine & research [Clin Med Res] 2024 Jun; Vol. 22 (2), pp. 107-111.
نوع المنشور: Case Reports; Journal Article; Review
بيانات الدورية: Publisher: Marshfield Clinic Country of Publication: United States NLM ID: 101175887 Publication Model: Print Cited Medium: Internet ISSN: 1554-6179 (Electronic) Linking ISSN: 15394182 NLM ISO Abbreviation: Clin Med Res Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/drug therapy , Alkaptonuria*/diagnosis, Humans ; Male ; Middle Aged ; Ascorbic Acid/therapeutic use ; Nitrobenzoates/therapeutic use ; Ochronosis ; Cyclohexanones/therapeutic use ; Homogentisic Acid ; Physical Therapy Modalities
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8دورية أكاديمية
المؤلفون: Bernardini G; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy. giulia.bernardini@unisi.it., Braconi D; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Zatkova A; Institute of Clinical and Translational Research, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.; Geneton Ltd, Bratislava, Slovakia., Sireau N; AKU Society, Cambridge, UK., Kujawa MJ; 2nd Department of Radiology, Medical University of Gdansk, Gdansk, Poland., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Spiga O; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Geminiani M; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Gallagher JA; 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, Royal Liverpool University Hospital, Liverpool, UK., Santucci A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
المصدر: Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Mar 07; Vol. 10 (1), pp. 16. Date of Electronic Publication: 2024 Mar 07.
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101672103 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-676X (Electronic) Linking ISSN: 2056676X NLM ISO Abbreviation: Nat Rev Dis Primers Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/complications , Alkaptonuria*/diagnosis , Alkaptonuria*/therapy , Ochronosis*/complications , Ochronosis*/diagnosis, Male ; Humans ; Female ; Quality of Life ; Kidney/metabolism ; Homogentisic Acid/metabolism
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9دورية أكاديمية
المؤلفون: Tokuhara Y; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Takamatsu, Kagawa, Japan., Ohara K; Faculty of Pharmaceutical Sciences at Kagawa Campus, Tokushima Bunri University, Sanuki, Kagawa, Japan., Morinishi T; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Takamatsu, Kagawa, Japan., Yamaguchi K; Faculty of Pharmaceutical Sciences at Kagawa Campus, Tokushima Bunri University, Sanuki, Kagawa, Japan., Tada S; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Takamatsu, Kagawa, Japan.
المصدر: Journal of clinical laboratory analysis [J Clin Lab Anal] 2023 Nov; Vol. 37 (21-22), pp. e24976. Date of Electronic Publication: 2023 Oct 25.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825 (Electronic) Linking ISSN: 08878013 NLM ISO Abbreviation: J Clin Lab Anal Subsets: MEDLINE
مواضيع طبية MeSH: Alkaptonuria*/diagnosis , Alkaptonuria*/urine, Humans ; Spectrometry, Mass, Electrospray Ionization ; Homogentisic Acid/urine ; Hydroxides ; Ascorbic Acid
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10تقرير
المؤلفون: Shibata R; Department of Orthopedic Surgery, Fukuoka University, Japan., Tanaka J; Department of Orthopedic Surgery, Fukuoka University, Japan. Electronic address: tanakajun@adm.fukuoka-u.ac.jp., Shiokawa T; Department of Orthopedic Surgery, Fukuoka University, Japan., Yamamoto T; Department of Orthopedic Surgery, Fukuoka University, Japan.
المصدر: Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association [J Orthop Sci] 2023 Nov; Vol. 28 (6), pp. 1467-1469. Date of Electronic Publication: 2021 Aug 14.
نوع المنشور: Case Reports
بيانات الدورية: Publisher: Elsevier Country of Publication: Japan NLM ID: 9604934 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1436-2023 (Electronic) Linking ISSN: 09492658 NLM ISO Abbreviation: J Orthop Sci Subsets: MEDLINE