For this GeneReview, the term" isolated methylmalonic acidemia" refers to a group of inborn
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …

Disorders of intracellular cobalamin metabolism have a variable phenotype and age of
onset that are influenced by the severity and location within the pathway of the defect. The …

A Na + -dependent neutral and cationic amino acid transport system (B 0+ ) plays an important
role in many cells and tissues; however, the molecular basis for this transport system is …

… Hay, WW, MJ Rosol, DE Jory, and JL Sloan, II, Plate tectonics control of global patterns of …
Sloan, JL, II, Cenozoic organic carbon distribution in the deep sea, MS Thesis, 197 pp., Univ…

We have produced a series of paleogeographic maps at 20-my intervals from 180 my ago to
the present. The location of the ancient shoreline has been indicated on the maps. The …

Derivatives of vitamin B 12 (cobalamin) are essential cofactors for enzymes required in
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by …

Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in
the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that …

Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme
methylmalonyl-CoA mutase (MUT), is often complicated by end stage renal disease that is …

Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism
caused by a defect in the methylmalonyl‐CoA mutase (MMUT) enzyme or the synthesis and …

We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic
aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and …