Results 121 to 130 of about 1,688 (193)

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I. [PDF]

BMC Pediatr
Ramanna MB, Kamate M, Koppad B.
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

Ochronosis of hip joint; a case report [PDF]

Babak Siavashi, Mohammad J Zehtab, Ehsan Pendar, JM Keller, JMF Spencer, EJ Collins, P Borman, G Sahin, RV Kumar, AE Garrod, A Farzannia, SK Kalevski, K Dom, S Aydogdu, N Hamdi, FH Laskar, AA Fisher, S Chua   +17 more
core   +1 more source

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights. [PDF]

Int J Mol Sci
Saraceno E, Serra I, Bracci B, Pagliardini V, Pinon M, Tuli G, Versace A, Bondone C, Spada M.   +8 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

Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report. [PDF]

Cureus
Braga R, Teixeira F, Matos C.
europepmc   +1 more source

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1. [PDF]

Am J Case Rep
Bruno R, Donatelli S, Mastropasqua L, Nubile M.   +3 more
europepmc   +1 more source

Drug-induced cataract: a real-world study based on the food and drug administration adverse event reporting system database. [PDF]

Front Med (Lausanne)
Cao X, Zhou X, Wu S, Zeng J, Ou Y, Zhou Q.   +5 more
europepmc   +1 more source

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

Int J Spine Surg
Sampaio Júnior FAU, Alves OL, Ribeiro FRB, Quidute BSQ, Ferreira RJR, Lira Filho HT, Ramiro KRB, Santos MMD, Rodrigues MS, Santos LSRD, Silva AIK, Sampaio LMQ.   +11 more
europepmc   +1 more source