<p id="p001">We report on a newborn girl with microcephaly, abnormal brain development,
optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma …

Science is stratified, with an unequal distribution of research facilities and rewards among
scientists. Awards and prizes, which are critical for shaping scientific career trajectories, play a …

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital
anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor …

Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an
autosomal recessive chondrodystrophy with a lethal course, characterized by fetal hydrops, …

The enterohepatic circulation of bile salts is an important physiological route to recycle bile
salts and ensure intestinal absorption of dietary lipids. The Na + ‐taurocholate cotransporting …

The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main
subgroup of the peroxisome biogenesis disorders and can be caused by mutations in any of …

Background Peroxisomes are organelles that proliferate continuously and play an indispensable
role in human metabolism. Consequently, peroxisomal gene defects can cause multiple…

ABCD3 is one of three ATP-binding cassette (ABC) transporters present in the peroxisomal
membrane catalyzing ATP-dependent transport of substrates for metabolic pathways …

Mevalonate kinase deficiency (MKD) is an autoinflammatory disorder characterized by recurring
fever episodes and results from disturbed isoprenoid biosynthesis. Lipopolysaccharide-…

Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine
and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (…