Results 241 to 250 of about 132,412 (405)
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero+9 more
doaj
Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult. [PDF]
Nazarali S, Derfalvi B, Clark P.
europepmc +1 more source
An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum
Emanuel Epstein
openalex +2 more sources
The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]
J. B. Holton
openalex +1 more source
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott+5 more
wiley +1 more source
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach. [PDF]
Rozevska M+17 more
europepmc +1 more source
Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?
Shiro Hayashi+4 more
openalex +2 more sources