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  2. Alpha-fetoprotein - Wikipedia

    en.wikipedia.org/wiki/Alpha-fetoprotein

    Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein [5] [6] that in humans is encoded by the AFP gene. [ 7 ] [ 8 ] The AFP gene is located on the q arm of chromosome 4 (4q13.3). [ 9 ]

  3. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...

  4. Enzyme replacement therapy - Wikipedia

    en.wikipedia.org/wiki/Enzyme_replacement_therapy

    Substrate reduction therapy is FDA approved and there is at least one treatment available on the market. [10] Gene therapy aims to replace a missing protein in the body through the use of vectors, usually viral vectors. [11] In gene therapy, a gene encoding for a certain protein is inserted into a vector. [11]

  5. Asfotase alfa - Wikipedia

    en.wikipedia.org/wiki/Asfotase_alfa

    Hypophosphatasia is caused by a genetic defect of tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme that plays a role in bone mineralization. Asfotase alfa is a recombinant glycoprotein that contains the catalytic domain (the active site) of TNSALP. It is thus a form of enzyme replacement therapy. [5] [12]

  6. Fetal protein - Wikipedia

    en.wikipedia.org/wiki/Fetal_protein

    It is a tetramer protein with 2 alpha and 2 gamma subunits. This is different from adult hemoglobin because it has 2 alpha and 2 beta subunits. Fetal hemoglobin is coded by a gene on chromosome 11. The gamma subunit on fetal hemoglobin contains a neutral and nonpolar amino acid at position 136, unlike the beta subunit of adult hemoglobin.

  7. Elevated alpha-fetoprotein - Wikipedia

    en.wikipedia.org/wiki/Elevated_alpha-fetoprotein

    Elevated alpha-fetoprotein refers to a state where alpha-fetoprotein levels are outside of the reference range. There are two categories of AFP tests: tests performed on serum (blood plasma), and tests performed on amniotic fluid. Tests performed on serum are further categorized by the reason for performing the test: maternal serum, adult tumor ...

  8. CYP3A4 - Wikipedia

    en.wikipedia.org/wiki/CYP3A4

    1576 n/a Ensembl ENSG00000160868 n/a UniProt P08684 n/a RefSeq (mRNA) NM_001202855 NM_001202856 NM_001202857 NM_017460 n/a RefSeq (protein) NP_001189784 NP_059488 n/a Location (UCSC) Chr 7: 99.76 – 99.78 Mb n/a PubMed search n/a Wikidata View/Edit Human Cytochrome P450 3A4 (abbreviated CYP3A4) (EC 1.14.13.97) is an important enzyme in the body, mainly found in the liver and in the intestine ...

  9. Acute fatty liver of pregnancy - Wikipedia

    en.wikipedia.org/wiki/Acute_fatty_liver_of_pregnancy

    Acute fatty liver of pregnancy is a rare life-threatening complication of pregnancy that occurs in the third trimester or the immediate period after delivery. [1] It is thought to be caused by a disordered metabolism of fatty acids by mitochondria in the fetus, caused by long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. [2]

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