Results 191 to 200 of about 2,214,124 (236)

MR Neuroimaging in Pediatric Inborn Errors of Metabolism

Diagnostics, 2022
Matthew Whitehead, Andrea L Gropman
exaly  

Ocular manifestations of inborn errors of carbohydrate and lipid metabolism.

Bibliotheca ophthalmologica : supplementa ad ophthalmologica, 1975
openaire   +3 more sources

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

Pathogens, 2023
Mg Geeta, Kalpana George
exaly  

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Journal of Clinical Immunology, 2021
José Franco, Jennifer Puck, Raz Somech   +2 more
exaly  

Extended Risk of Mortality in Children with Inborn Errors of Metabolism: A Longitudinal Cohort Study

Journal of Pediatrics, 2023
Nathalie Auger, Marianne Bilodeau Bertrand, Laura Arbour   +2 more
exaly  

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

Pathogens, 2022
Vivien Béziat, Ahmed Aziz Bousfiha, Emmanuelle Jouanguy   +2 more
exaly  

[Inborn errors of lipid metabolism].

Bruxelles medical, 1998
J, FREZAL, J, REY
openaire   +1 more source

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

Nutrients, 2017
Christel Tran
exaly  

Refsum's disease (heredopathia atactica polyneuritiformis): An inborn error of lipid metabolism with storage of 3,7,11,15-tetramethyl hexadecanoic acid

The American Journal of Medicine, 1965
R. Richterich, P. van Mechelen, E. Rossi
openaire   +3 more sources

Familial Plasma Lecithin: Cholesterol Acyltransferase Deficiency Biochemical Study of a New Inborn Error of Metabolism

Scandinavian Journal of Clinical and Laboratory Investigation, 1967
E Gjone, Kaare R Norum
exaly