Results 91 to 100 of about 968 (157)

Total Knee Arthroplasty in Alkaptonuric Patient With Ochronotic Arthropathy. [PDF]

J Am Acad Orthop Surg Glob Res Rev
Michalak P, Buchcic P, Drobniewski M, Borowski A.   +3 more
europepmc   +1 more source

Cardiovascular involvement in Alcaptonuria: a case report on ochronotic aortic valve. [PDF]

J Cardiothorac Surg
Yusifli A, Coskun U, Deniz Y, Kale A, Ayık MF, Buket S.   +5 more
europepmc   +1 more source

Pediatric liver transplantation for inherited metabolic disease-Current challenges. [PDF]

Saudi J Gastroenterol
Vara R, Hadzic N.
europepmc   +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

Biochemical investigations into the impact of nitisinone treatment on the metabolome and assessment of whether nitisinone induced hypertyrosinaemia alters neurotransmitter metabolism [PDF]

, 2020
openaire   +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

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

New drugs: Nitisinone

Australian Prescriber, 2009
openaire   +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