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

Journal 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, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj  

Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult. [PDF]

Allergy Asthma Clin Immunol
Nazarali S, Derfalvi B, Clark P.
europepmc   +1 more source

Surgery for metabolic liver disease [PDF]

, 1986
Starzl, TE
core  

An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum

, 1978
Emanuel Epstein
openalex   +2 more sources

The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]

, 1985
J. B. Holton
openalex   +1 more source

Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity

Human Genetics, 2020
Shen-Ying Zhang
semanticscholar   +1 more source

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

American 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, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach. [PDF]

Front Immunol
Rozevska M, Daila Neiburga-Vigante K, Nartisa I, Lucane Z, Ozola L, Bardina L, Jaunalksne I, Gerula N, Krike P, Taurina G, Nokalna-Spale I, Micule I, Vilne B, Kisand K, Pajusalu S, Gailite L, Rots D, Kurjane N.   +17 more
europepmc   +1 more source

Liver transplantation [PDF]

, 1992
Esquivel, CO, Starzl, TE
core   +1 more source

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

, 1979
Shiro Hayashi, A. Kimura, Ryoichi Hoshino, Kiyoshi Takahashi, KOICHI TSURUMI   +4 more
openalex   +2 more sources