Results 131 to 140 of about 2,978 (184)

Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Hujjat SFZ, Chandani DK, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

A Rare Diagnosis in a Resource-Limited Setting: Alkaptonuria in a Young Dominican Child. [PDF]

Cureus
Ortiz Hernández IY, García Grullon C, Rijo Florimon K, Bueno Fernandez LA, Espaillat Solano L.   +4 more
europepmc   +1 more source

Intraoperative Findings in Total Hip Arthroplasty Leading to a Diagnosis of Alkaptonuria in a Patient With Severe Hip Osteoarthritis Initially Attributed to Rheumatoid Arthritis: A Case Report. [PDF]

Cureus
Tzellios IK, Papageorgiou SC, Tilkidis FA, Pakos EE.   +3 more
europepmc   +1 more source

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

Treatment of Ochronotic Osteoarthropathy and the Evaluation of Selected Lower Limb Muscle Properties, Including the Patellar Tendon: A Case Report and Mini Literature Review. [PDF]

J Clin Med
Jarecki J, Tomczyk-Warunek A, Posturzyńska A, Warda E, Waśko M, Arciszewski K, Tomaszewska E, Muszyński S, Bieniaś J, Ostapiuk M, Skrzypek T, Gągała J.   +11 more
europepmc   +1 more source

[Alkaptonuria].

Lijecnicki vjesnik, 1998
I, RAKULJIC, D, KATUNARIC
openaire   +3 more sources

The First 40 Years of Molecular Ophthalmology Part Two: Diseases of the Primary Cilium and Heritable Glaucoma: The 2026 Friedenwald Lecture. [PDF]

Invest Ophthalmol Vis Sci
Sheffield VC.
europepmc   +1 more source

Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review. [PDF]

Mol Genet Metab Rep
Qiu X, Liu Y, Shao Y, Mao X, Zhang J, Chen X, Yin X, Sheng H, Li X, Lin Y.   +9 more
europepmc   +1 more source

Incidental Discovery of Ochronosis During Total Knee Arthroplasty: A Case Report and Literature Review. [PDF]

Arthroplast Today
Demain A, Willemart E.
europepmc   +1 more source