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UnknownMutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Not available
S-EPMC384941 | biostudies-literature
UnknownBezafibrate for X-linked adrenoleukodystrophy.
Not available
S-EPMC3401223 | biostudies-literature
UnknownImpaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition.
Not available
S-EPMC4862637 | biostudies-literature
UnknownGenetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
Not available
S-EPMC2276345 | biostudies-literature
UnknownPeroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
Not available
S-EPMC3963001 | biostudies-literature
Unknown2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
Not available
S-EPMC1180283 | biostudies-literature
UnknownCardiac-specific succinate dehydrogenase deficiency in Barth syndrome.
Not available
S-EPMC4734842 | biostudies-literature
UnknownBi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Not available
S-EPMC6732527 | biostudies-literature
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