Results 241 to 250 of about 132,412 (405)

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

open access: yesJournal of Lipid Research
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  

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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]

open access: yesFront Immunol
Rozevska M   +17 more
europepmc   +1 more source

Liver transplantation [PDF]

open access: yes, 1992
Esquivel, CO, Starzl, TE
core   +1 more source

Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?

open access: bronze, 1979
Shiro Hayashi   +4 more
openalex   +2 more sources

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