Results 81 to 90 of about 968 (157)
Suitability of nitisinone for alkaptonuria [PDF]
The Lancet Diabetes & Endocrinology, 2020 openaire +4 more sources
Alkaptonuria: Current Perspectives
The Application of Clinical Genetics, 2020 Andrea Zatkova,1 Lakshminarayan Ranganath,2 Ludevit Kadasi1,3 1Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia; 2National Alkaptonuria Centre ...
Zatkova A, Ranganath L, Kadasi L
doaj
Metabolomic changes associated with acquired resistance to Ixodes scapularis
Ticks and Tick-Borne DiseasesGuinea pigs repeatedly exposed to Ixodes scapularis develop acquired resistance to the ticks (ATR). The molecular mechanisms of ATR have not been fully elucidated, and partially involves immune responses to proteins in tick saliva.
Yingjun Cui +6 more
doaj +1 more source
Behavioral and intellectual functioning in patients with tyrosinemia type I [PDF]
Pediatric Endocrinology, Diabetes and Metabolism, 2012 Introduction: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients’ cognitive development.
Agnieszka Kowalik +6 more
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Therapeutic adenine base editor with minimized off-target effects. [PDF]
Protein CellSun Y +6 more
europepmc +1 more source
Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I. [PDF]
BMC PediatrRamanna MB, Kamate M, Koppad B.
europepmc +1 more source
Spontaneous Achilles tendon rupture as the initial presentation of ochronosis: a case report. [PDF]
Int J Surg Case RepAl-Zagebah A +4 more
europepmc +1 more source
Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria. [PDF]
Ann Med Surg (Lond)Chandani HK +4 more
europepmc +1 more source
OGFOD1: a critical mediator of chemoresistance in acute myeloid leukemia. [PDF]
Front PharmacolQiu T, Li P, Tan L, Wu S, Luo Q.
europepmc +1 more source