Results 21 to 30 of about 110,455,116 (191)

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method. [PDF]

open access: yesJ Inherit Metab Dis
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Stolwijk NN   +6 more
europepmc   +2 more sources

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants

open access: yesMolecular Genetics & Genomic Medicine, 2023
Background Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or “classic” form to a milder, late‐onset, or “unconventional” form.
Melissa Daou   +9 more
doaj   +1 more source

Urea cycle disorders and indications for liver transplantation

open access: yesFrontiers in Pediatrics, 2023
Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea.
Marta García Vega   +7 more
doaj   +1 more source

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

open access: yesHepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring   +70 more
wiley   +1 more source

Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1–Deficient Malignant Pleural Mesothelioma [PDF]

open access: yesJAMA Oncology, 2017
Preclinical studies show that arginine deprivation is synthetically lethal in argininosuccinate synthetase 1 (ASS1)-negative cancers, including mesothelioma. The role of the arginine-lowering agent pegylated arginine deiminase (ADI-PEG20) has not been evaluated in a randomized and biomarker-driven study among patients with cancer.To assess the clinical
Szlosarek, Peter W.   +31 more
  +10 more sources

Comparison of dietary arginine or/and inulin supplementation on growth, digestive ability and ammonia tolerance of juvenile yellow catfish Pelteobagrus fulvidraco

open access: yesAquaculture Reports, 2023
Most fish have limited use of arginine, and increasing arginine availability by adding other nutrients is an effective method. Inulin is thought to have potential synergistic effects with arginine.
Ming Li   +3 more
doaj   +1 more source

Intracellular arginine-dependent translation sensor reveals the dynamics of arginine starvation response and resistance in ASS1-negative cells

open access: yesCancer & Metabolism, 2021
Background Many cancers silence the metabolic enzyme argininosuccinate synthetase 1 (ASS1), the rate-limiting enzyme for arginine biosynthesis within the urea cycle. Consequently, ASS1-negative cells are susceptible to depletion of extracellular arginine
Leonard C. Rogers   +5 more
doaj   +1 more source

Bench-to-Bedside Studies of Arginine Deprivation in Cancer

open access: yesMolecules, 2023
Arginine is a semi-essential amino acid which becomes wholly essential in many cancers commonly due to the functional loss of Argininosuccinate Synthetase 1 (ASS1).
George C. Field   +2 more
doaj   +1 more source

Characterization of Late-Onset Citrullinemia 1 in a Korean Patient: Confirmation by Argininosuccinate Synthetase Gene Mutation Analysis [PDF]

open access: yesBMB Reports, 2006
A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic evaluation revealed significant hyperammonemia (1,112 microg/dl). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels of citrulline (1,350 microM/l) with undetectable levels of ...
In-Suk, Kim   +5 more
openaire   +2 more sources

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