Results 121 to 130 of about 968 (157)

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

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

The beta-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake

Stavrou-Dowd ZT, Parsons G, Rose C, Brown F, Lees RS, Acosta-Serrano Á, Haines LR.   +6 more
europepmc   +1 more source

Integrating computational engines to identify <i>TSPAN6</i> as a migrasome-associated target for immunotherapy sensitization. [PDF]

Front Immunol
Fang L, Pan H, Zhu Y.
europepmc   +1 more source

Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature. [PDF]

Clin Med Res
Bhatti IA, Saqib M, Rehman IU, Amjed S, Hashim HT, Butt AA.   +5 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

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The Role of Nitisinone in Tyrosine Pathway Disorders

Current Rheumatology Reports, 2014
Nitisinone 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione (NTBC), an effective herbicide, is the licensed treatment for the human condition, hereditary tyrosinaemia type 1 (HT-1). Its mode of action interrupts tyrosine metabolism through inhibition of 4-hydroxyphenylpyruvate dioxygenase (HPPD).
Lakshminarayan Ranganath, Ranganath Lakshminarayan R   +1 more
exaly   +3 more sources

Efficacy and safety of Nitisinone for patients with alkaptonuria: A systematic review with metanalysis

Molecular Genetics and Metabolism
We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria (AKU).Randomized clinical trials that assessed the impact of nitisinone on urinary and serum homogentisic acid (HGA), quality of life, joint range of motion, and adverse events in AKU patients were retrieved from Pubmed and ...
Flavia Diniz Mayrink, Camila Alves Areda
exaly   +3 more sources