Titlebook: JIMD Reports, Volume 24; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

somnambulism

A. Torres,S. A. Newton,B. Crompton,A. Borzutzky,E. J. Neufeld,L. Notarangelo,G. T. Berry

不規(guī)則的跳動(dòng)

M. M. Vawter-Lee,B. E. Hallinan,T. A. Burrow,C. G. Spaeth,T. M. Arthur

prick-test

antidote

Matthias Zielonka,Nawal Makhseed,Nenad Blau,Markus Bettendorf,Georg Friedrich Hoffmann,Thomas Oplade

確保

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identificatio termination codon (no stop). Nine of the mutations were previously unreported novel variants. Using computational approaches based on the 3D structure, these novel mutations are predicted to affect the activity of the protein complex through destabilisation of the individual protomer structure or t

雜役

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria,of between 0.5 and 3.5?years. Urine HGA, plasma tyrosine levels, and plasma NTBC were then measured longitudinally at various doses. We found that tyrosine concentrations plateaued and did not reach significantly higher levels as NTBC doses were increased above 2?mg/day, while a significant drop in

LAY

Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyr(range 1.6–6.7)..Nitisinone decreased urinary excretion of HGA in a concentration-dependent manner, with a maximum effect seen at average nitisinone concentrations of 3?μmol/L. The association between nitisinone and tyrosine concentrations was less pronounced. Serum levels of HGA at Week 4 were belo

Obvious

LEER

Age-Related Deviation of Gait from Normality in Alkaptonuria, the deviation of a patient’s gait from a distributed definition of gait normality. Results showed that gait deviation roughly follows a sigmoid profile with minimal increase of gait deviations in a younger patient group and an abrupt large increase around the second half of the 4th decade of life.

MAIM

Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice,al therapy for AKU, was able to completely prevent deposition of ochronotic pigment. However, although nitisinone has been shown to inhibit ochronotic deposition, whether it can also facilitate removal of existing pigment has not yet been examined. We describe here that midlife administration of nit