Titlebook: JIMD Reports - Case and Research Reports, 2012/2; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

epidermis

證明無(wú)罪

GROSS

Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children,D...: A total of 12,728 plasma and urine samples from patients suspected of having IEM were received from physicians all over Malaysia. Plasma amino acids quantitation using fully automated amino acid analyzer and identification of urinary organic acids using Gas Chromatography Mass Spectrometry (GC

Integrate

縱欲

Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in t5. This missense mutation is likely to be pathogenic since it affects an amino acid residue that is highly conserved across species and is absent from the dbSNP and 1,000 genomes databases. Review of literature and comparison were made with previously reported cases of this recently identified mitoc

節(jié)約

Expanding the Spectrum of PMM2-CDG Phenotype,arian failure. Finally, the absence of any abnormal clinical or biological signs as for the case completes the clinical spectrum of PMM2-CDG at its extreme end, at the opposite of the supposed total lethality of the R141H homozygous status.

去世

corpus-callosum

SOW

無(wú)節(jié)奏