Results 11 to 20 of about 62,038 (258)

Inborn Errors of Immunity and Cancer [PDF]

open access: yesBiology, 2021
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all
Tiri A.   +7 more
openaire   +4 more sources

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

open access: yes, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]

open access: yes, 2019
This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim   +4 more
core   +1 more source

Endocrinopathies in Inborn Errors of Immunity [PDF]

open access: yesFrontiers in Immunology, 2021
Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands ...
Hirokazu Kanegane   +3 more
openaire   +4 more sources

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

open access: yesScientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron   +6 more
doaj   +1 more source

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

open access: yesMolecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares   +13 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

open access: yes, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

open access: yesMolecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger   +7 more
doaj   +1 more source

Indications for pediatric liver transplantation [PDF]

open access: yes, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis   +21 more
core   +1 more source

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