نتایج جستجو برای: ethylmalonic aciduria

تعداد نتایج: 1386  

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2011

Journal: :Chemical communications 2007
Giuseppe Bartoli Marcella Bosco Armando Carlone Manuela Locatelli Andrea Mazzanti Letizia Sambri Paolo Melchiorre

The use of a bifunctional Cinchona alkaloid catalyst has provided a new organocatalytic strategy for the enantioselective addition of diphenylphosphine to a range of nitroalkenes, affording optically active beta-nitrophosphines (up to 99% ee after crystallization); this organocatalytic approach, providing a direct route to a new class of potentially useful enantiopure P,N-ligands, constitutes a...

1998
Dominik J. Schwarz

The spectrum of gravitational waves that have been produced in inflation is modified during cosmological transitions. Large drops in the number of relativistic particles, like during the QCD transition or at ee annihilation, lead to steps in the spectrum of gravitational waves. We calculate the transfer function for the differential energy density of gravitational waves for a first-order and fo...

Journal: :Clinical Chemistry and Laboratory Medicine 1978

2012
MinYan Jiang Li Liu MinZhi Peng CuiLi Liang HuiYing Sheng YanNa Cai

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. It is caused by rare mutations as well as polymorphic susceptibility variants. We describe here the case of a 1-year-old male patient who had growth and mental retardation, seizures, and recurring fever since infancy. Urinary gas chromatography/mass spectrometr...

Journal: :Annals of clinical and laboratory science 2011
Se Hwa Kim Hyung-Doo Park Young Bae Sohn Sung Won Park Sung Yoon Cho Suntae Ji Su Jin Kim Eun Wha Choi Chi Hwa Kim Ah-Ra Ko Sunghee Yeau Kyung-Hoon Paik Dong-Kyu Jin

Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic in...

Journal: :Journal of Medical Genetics 2000

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