نتایج جستجو برای: bckd deficiency
تعداد نتایج: 137174 فیلتر نتایج به سال:
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSU...
Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain keto-acid dehydrogenase complex (BCKD), have recently been associated with a form of autism in three families. In this work, two novel exonic BCKDK mutations, c.520C>G/p.R174G and c.1166T>C/p.L389P, were identified at the homozygous state in two unrelated children w...
Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. MSUD can be classified into genetic subtypes according to the genes of the branched-chain alpha-ketoacid d...
The three branched-chain amino acids (BCAAs) are the most hydrophobic of the amino acids and play crucial roles in determining the structures of globular proteins as well as the interaction of the transmembrane domains of membranous proteins with phospholipid bilayers. However, the three BCAAs do not behave identically. In terms of protein secondary structure, valine and isoleucine exhibit a de...
The three branched-chain amino acids (BCAAs) are the most hydrophobic of the amino acids and play crucial roles in determining the structures of globular proteins as well as the interaction of the transmembrane domains of membranous proteins with phospholipid bilayers. However, the three BCAAs do not behave identically. In terms of protein secondary structure, valine and isoleucine exhibit a de...
Maple syrup urine disease (MSUD) or branched-chain a -ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. MSUD can be classified into genetic subtypes according to the genes of the branched-chain a -ketoacid dehydro...
هدف: تعیین فراوانی کمبود ویتامین d درمراجعه کنندگان به درمانگاه غدد بالغین بیمارستان بوعلی تهران طی سال های1388-1387 مواد و روش ها: مطالعه در سال 1387 در درمانگاه غدد بیمارستان بوعلی آغاز شد. جمعیت مورد مطالعه بیمارانی بودند که جهت درمان به درمانگاه غدد مراجعه کرده بودند. اطلاعات جمع آوری شده شامل مشخصات از جمله سن، جنس، قد، وزن و علت مراجعه به درمانگاه ویافته های آزمایشگاهی مانند سطح سرمی (o...
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