Results 141 to 150 of about 3,470 (203)

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene. [PDF]

Orphanet J Rare Dis
Zhang Y, Gu X, Shi C, Xiong H, Xiao D, Deng Z, Wang L, Yang X, Wei T, Liang P, Hao H.   +10 more
europepmc   +1 more source

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Witt AS, Cava Prado L, Neumann R, Weedman J, Moseley R, Guttipatti P, Ung TH.   +6 more
europepmc   +1 more source

Watermelon fruit metabolome gene discovery and its application in breeding: a review. [PDF]

Front Plant Sci
Kenea FT, He N, Lu X, Luo X, Zhu H, Liu W.   +5 more
europepmc   +1 more source

Transposon insertion sequencing identifies novel genes involved in product synthesis in gas-fermenting <i>Clostridium ljungdahlii</i>. [PDF]

Synth Syst Biotechnol
Zhang Z, Yang F, Liu Y, Ye W, Jia D, Tian Y, Jiang W, Wang Q, Gu Y.   +8 more
europepmc   +1 more source

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series. [PDF]

JIMD Rep
Tholl SQ, McCaul W, Rupar A, Napier MP, Karp N, Yu AC, Ratko S, Khan A, Geraghty M, Prasad C.   +9 more
europepmc   +1 more source

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models. [PDF]

J Inherit Metab Dis
Ramosaj A, Borsuk M, Underhaug J, Mathis D, Matsumoto S, Keogh A, Banz V, Pandey AV, Gougeard N, Rubio V, Martinez A, Allegri G, Poms M, Thöny B, Häberle J, Laemmle A.   +15 more
europepmc   +1 more source

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency. [PDF]

Clin Case Rep
Ito Y, Kakiuchi T, Yoshioka F, Yoshiura M.   +3 more
europepmc   +1 more source

Uga3 influences nitrogen metabolism in <i>Saccharomyces cerevisiae</i> by modulating arginine biosynthesis. [PDF]

Microb Cell
Urtasun N, Muñoz SA, Arán M, Bermúdez-Moretti M.   +3 more
europepmc   +1 more source

Targeting arginine metabolism overcomes chemotherapy resistance in aggressive-variant prostate cancers. [PDF]

iScience
Subramani E, Pilié PG, Slack-Tidwell R, Viscuse PV, Kuang X, Kandasamy T, Awad D, Han JJ, Huang L, Peterson CB, Zurita AJ, Subudhi SK, Corn PG, Soundararajan R, Shepherd P, Piyarathna B, Putluri V, Putluri N, Sreekumar A, Wang Y, Zoubeidi A, Mahmud I, Martinez SA, Tan L, Lorenzi PL, Basu S, Jindal S, Sharma P, Logothetis CJ, Thompson TC, Frigo DE, Aparicio AM.   +31 more
europepmc   +1 more source

Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report. [PDF]

Transl Pediatr
Zhang Z, Xie T, Pan D, Ju X, Shi L, Ma X, Gao Z, Chen Z.   +7 more
europepmc   +1 more source