Results 61 to 70 of about 1,361 (101)

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India. [PDF]

Indian J Med Res
Abraham SSC, Barney A, Mohan S, Joy P, Ganesan P, Das S, Cherupanakkal C, Jose A, A R, Zatkova A, Danda S.   +10 more
europepmc   +1 more source

Erratum to 'Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria' [Arthroplasty Today. Volume 6, Issue 4, December 2020, Pages 689-693]. [PDF]

Arthroplast Today
Al-Ajlouni JM, Alisi MS, Yasin MS, Khanfar A, Hamdan M, Halaweh AA, Al Hawamdeh H, Tayyem M, Alsbou MS.   +8 more
europepmc   +1 more source

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

Mol Genet Metab
Spears KR, Rossignol F, Perry MB, Kayser MA, Suwannarat P, O'Brien KE, Bryant JC, Greenwood WF, Fuller S, Gahl WA, Introne WJ.   +10 more
europepmc   +1 more source

Blackish Discoloration of Articular Cartilage during Total Knee Replacement; a Case Report. [PDF]

J Orthop Case Rep
Puthanveetil DE, Subhash VP, Kannu AN, Kavalakkatt K.   +3 more
europepmc   +1 more source

Integrated Clinomics and Molecular Dynamics Simulation Approaches Reveal the SAA1.1 Allele as a Biomarker in Alkaptonuria Disease Severity. [PDF]

Biomolecules
Trezza A, Roncaglia B, Visibelli A, Barletta R, Peruzzi L, Marzocchi B, Braconi D, Spiga O, Santucci A.   +8 more
europepmc   +1 more source

A Comprehensive In Vitro and In Silico Approach for Targeting 4-Hydroxyphenyl Pyruvate Dioxygenase: Towards New Therapeutics for Alkaptonuria. [PDF]

Int J Mol Sci
Bernardini G, Trezza A, Petricci E, Romagnoli G, Zambardino D, Manetti F, Braconi D, Geminiani M, Santucci A.   +8 more
europepmc   +1 more source

Alkaptonuria with Fracture Neck of Femur - A Case Report. [PDF]

J Orthop Case Rep
Paul AJ, John AS, Chandy VJ.
europepmc   +1 more source

Avulsive Achilles Tendon Rupture in a Patient With Alkaptonuria: A Case Report. [PDF]

Cureus
Fabião L, França G, Cunha A, S Pereira B, Esteves N.   +4 more
europepmc   +1 more source

Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report. [PDF]

J Cardiothorac Surg
Hosseini S, Salari S, Ansari MJA, Hesami M, Banar S, Shojaei MA.   +5 more
europepmc   +1 more source