Results 31 to 40 of about 1,361 (101)

Musculoskeletal Manifestations of Alkaptonuria: A Case-Based Review of Literature. [PDF]

Cureus
K A, Kumar S, M V B, Ramadurai S, Mani R.   +4 more
europepmc   +1 more source

Alkaptonuria [PDF]

Journal of Medical Genetics, 1985
openaire   +1 more source

A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report. [PDF]

J Orthop Case Rep
Parth K, Kothari M, Haider H, Kedar M, Meshram C, Shiyam BS.   +5 more
europepmc   +1 more source

Combined alkaptonuria and osteoporosis contributing to chronic back pain. [PDF]

Endocrinol Diabetes Metab Case Rep
Riegler A, Anand G.
europepmc   +1 more source

Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria. [PDF]

JACC Case Rep
Origel Romero CA, Krasivskyi I, Salamate S, Bakhtiary F, Eghbalzadeh K.   +4 more
europepmc   +1 more source

Functional Characterization of <i>HGD</i> Gene Variants by Minigene Splicing Assay. [PDF]

Int J Mol Sci
Nekrasov A, Shchukina E, Rimskaya B, Zakharova E.   +3 more
europepmc   +1 more source

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria. [PDF]

Mol Genet Metab
Rossignol F, Pan KS, Perry MB, Bryant JC, O'Brien KJ, Castillo IJ, Spears KR, Ferreira CR, Murphey MD, Minn MJ, Gahl WA, Introne WJ.   +11 more
europepmc   +1 more source

Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation. [PDF]

Int J Mol Sci
Grasso D, Balloni V, Baratto MC, Mucci A, Santucci A, Bernini A.   +5 more
europepmc   +1 more source

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