Get Biochemistry and Genetics Flash Cards PDF

By Suzanne Baron

ISBN-10: 0071765808

ISBN-13: 9780071765800

Clinical situations offer entire, concise insurance of the biochemical and genetic ailments established at the USMLE Step 1 and in simple technological know-how courses.

  • A powerful specialize in the scientific elements of biochemical and genetic illness
  • Emphasizes boardrelevant assurance
  • Easily examine and distinction illnesses
  • Each disease-specific card features a scientific vignette
  • Important disorder proof are highlighted for quick review

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On examination, you notice that the child has not met her expected growth milestones. You also note evidence of hepatomegaly on examination. A series of initial laboratory studies reveal mild hypoglycemia, mildly elevated liver enzymes, and mild hyperlipidemia. You explain to the mother that you suspect that her daughter has a deficiency of a specific enzyme that is involved in glycogen metabolism, and you reassure her that this abnormality will likely resolve by puberty. Liver Phosphorylase Deficiency (Hers Disease) (Type VI) A 3-month-old girl is brought to your pediatric clinic because she is not feeding well and has poor weight gain.

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The first phase involves the formation of the ceramide core, which is produced by the combination of palmitoyl-CoA, serine, and a fatty acyl-CoA molecule. There are several possible pathways in the second phase of sphingolipid synthesis, which result in the formation of the different sphingolipids. In general though, the second phase involves the addition of a specific compound (eg, phosphocholine, glucose, galactose, sulfate, etc) to the hydroxyl group on the terminal carbon of the ceramide molecule.

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Biochemistry and Genetics Flash Cards by Suzanne Baron

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