American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source
Low Alanine Aminotransferase Levels in Alcohol Consuming Male Subjects, Carriers of the Common ALDH2 Deficient Variant, ALDH2*2. [PDF]
Hepatol ResSeike T +3 more
europepmc +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
Non-linear association of the alanine aminotransferase to high-density lipoprotein cholesterol ratio with non-alcoholic fatty liver disease: a secondary analysis of a Chinese cohort. [PDF]
Front Med (Lausanne)Lin X, Peng Y, Huang J, Huang Z.
europepmc +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Abnormal Serum Albumin, Alanine Aminotransferase, and Blood Urea Nitrogen are Associated with Higher Risks for Mechanical Ventilation and In-Hospital Mortality in COVID-19 Positive US Veterans. [PDF]
Biomark InsightsMoss WD +8 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar +3 more
wiley +1 more source
Recent Trends in Metabolomics by NMR Spectroscopy
Angewandte Chemie, EarlyView.AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco +6 more
wiley +2 more sources
Erratum to "Alanine aminotransferase contributes to hypoxia sensitivity and dormancy in barley seeds". [PDF]
Plant Genomeeuropepmc +1 more source
Antiviral treatment response to nucleos(t)ide analogues in chronic hepatitis B patients with normal alanine aminotransferase levels: a retrospective multi-center study. [PDF]
Emerg Microbes InfectCao F +19 more
europepmc +1 more source