Titlebook: JIMD Reports - Case and Research Reports, Volume 13; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag

Paradox

abduction

植物學(xué)

Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Eon, c.692T>G (p.F231C) in ETFDH. The affected animal only carries mutant alleles of ETFDH. p.F231 in feline ETFDH is completely conserved in eukaryotes, and is located on the apical surface of ETFDH, receiving electrons from ETF. This study thus identified the mutation strongly suspected to have bee

radiograph

Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconvent that the patient was apparently homozygous for a novel nucleotide deletion (c.840delG) in exon 6 leading to a premature termination codon (p.N281Mfs*23). However, family studies revealed that while the patient’s mother was heterozygous for this mutation, the father was heterozygous for a novel dele

set598

,Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent,nt mice, investigating the effects of two strain backgrounds. Morphological analysis indicated a severe consistent pattern of neuronal vacuolation and disintegrative degeneration in all five 129X1/SvJ mice. However, the mice with a mixed genetic background showed substantial variability in the sever

爭吵

High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria,nd in PKU adults well above. Children between 10 and 13 years had the highest level of plasma folate. Young children had both a high intake and high plasma levels of vitamin B12. Homocysteine levels were low or in the lower part of the normal reference range in most patients... Children with PKU are

dendrites

HILAR

搏斗

,Vestibular and Saccadic Abnormalities in Gaucher’s Disease,ith surface electrodes. HIT showed impaired individual semicircular canal function with halved angular vestibulo-ocular reflex (VOR) gains and absent horizontal refixation saccade. Ocular and cervical VEMPs to air-conducted clicks were absent in the older sibling, and only cervical VEMP was present

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