Inborn error of metabolism - Open Access .click

Results 221 to 230 of about 2,741,348 (370)

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]

, 2001
Chike Bellarmine Item +8 more
openalex +1 more source

Real‐World Unmet Needs of Patients With Haemophilia A and Haemophilia B With or Without Inhibitors: End‐of‐Study Results From the explorer6 Non‐Interventional Study

Haemophilia, EarlyView.
ABSTRACT Introduction Haemophilia is associated with high disease and treatment burdens. Prospective evaluation of data from patients with haemophilia helps understand and define unmet needs, optimise treatment and improve healthcare outcomes. Aim To present end‐of‐study data from explorer6 (NCT03741881), a prospective, non‐interventional study across ...
Allison P. Wheeler +14 more
wiley +1 more source

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter +3 more
core

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. [PDF]

Crit Rev Oncog, 2013
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. +3 more
europepmc +1 more source

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine [PDF]

, 2001
Sytske H. Moolenaar +12 more
openalex +1 more source

Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype

Hepatology Research, EarlyView.
Overview of the exome‐based genotype‐first reverse phenotyping approach targeting SERPINA1. The schematic illustrates key pathways, including cytolysis, cholestasis, and liver synthesis, alongside clinical and biological phenotyping through data extraction and an exome‐wide association approach.
Maël Silva Rodriguez +11 more
wiley +1 more source

Metabolic studies following orthotopic liver transplantation [PDF]

, 1971
Starzl, TE
core

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause [PDF]

, 2001
Allan Chiaratti de Oliveira +3 more
openalex +1 more source

Metabolic syndrome and Pathobiological Determination of Atherosclerosis in Youth risk score in adolescents with and without perinatally acquired HIV in the Cape Town Adolescent and Antiretroviral Cohort (CTAAC)‐Heart study

HIV Medicine, EarlyView.
Abstract Background Limited data exist describing metabolic syndrome (MetS) and Pathobiological Determinants of Atherosclerosis in Youth (PDAY) coronary arteries (CA) and abdominal aorta (AA) risk scores in youth with HIV in sub‐Saharan Africa.
Sahera Dirajlal‐Fargo +14 more
wiley +1 more source

Metabolic considerations of the portal circulation [PDF]

, 1988
Starzl, TE
core

humans
metabolism, inborn errors
3. good health

infant, newborn
child
female

amino acid metabolism, inborn errors
male
carbohydrate metabolism, inborn errors