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Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate. [PDF]

Orphanet J Rare Dis
Spada M, Porta F.
europepmc   +1 more source

Amino Acid Metabolism in Health and Disease. [PDF]

MedComm (2020)
Su Z, Liu J, Deng X, Luo Y, Xue H, Wang L, Xing L, Wu T.   +7 more
europepmc   +1 more source

The competition of amino acid among tumors, tumor-associated macrophages and T cells based on metabolic reprogramming. [PDF]

iScience
Xianyu C, Song Y, Zhao C, Min Q, Wang Z, Zhang M, Zhang B.   +6 more
europepmc   +1 more source

Notch-1 induces M2 polarization of tumor-associated macrophages via the YAP/EZH2/FOXD1/CD47 signaling axis, thereby driving non-small cell lung cancer progression. [PDF]

Front Med (Lausanne)
Guo L, Liu W, Shan M, Liu Y.
europepmc   +1 more source

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Case Series of Arginase 1 Deficiency: Expanding the Spectrum in Hyperargininemia

Pediatrics International, 2022
AbstractBackgroundArginase‐1 deficiency is a rare, autosomal recessively inherited disorder of the urea cycle. In this study, we describe the clinical and molecular details of six patients who were diagnosed with argininemia, and we describe two of the patients with hyperargininemia who carried two novel variations of the Arginase‐1 gene.MethodsThe ...
Cengiz Havalı, Sevil Dorum
exaly   +3 more sources

Biopsy-Proven Hepatocellular Carcinoma in a 53-Year-Old Woman With Arginase Deficiency

Pediatric and Developmental Pathology, 2017
Arginase 1 deficiency, the least common urea cycle disorder, commonly presents with childhood-onset spastic paraplegia, progressive neurologic impairment, epilepsy, and developmental delay or regression.
Gerald S Lipshutz, Stephen Cederbaum, Charles Lassman   +2 more
exaly   +2 more sources

Clinical Status, Biochemical Profile and Management of a Single Cohort of Patients With Arginase Deficiency [PDF]

JIMD Reports, 2022
Arginase deficiency is a rare autosomal recessive urea cycle disorder (UCD) caused by mutations in the ARG1 gene encoding arginase that catalyses the hydrolysis of arginine to ornithine and urea.
Nandaki Keshavan, Spyros Batzios, Mario Cortina-Borja   +2 more
exaly   +2 more sources