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Results 1 - 10 of 182 for Liver function tests
  1. PMM2-congenital disorder of glycosylation 
    ... Children with PMM2-CDG may also have elevated liver function test results, seizures, fluid around the heart (pericardial effusion), ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  2. HNF1A gene 
    ... function of the HNF-1α protein in affected liver cells. It is unclear how loss of HNF-1α function causes cells to grow uncontrollably and form tumors. HNF1 Homeobox A Gene LFB1 TCF1 Tests of HNF1A PubMed HNF1 HOMEOBOX A; HNF1A NCBI ...
    https://medlineplus.gov/genetics/gene/hnf1a - Genetics
  3. TWNK gene 
    ... experience weak muscle tone (hypotonia), a decrease in liver function, developmental delay, seizures, and loss of sensation and ... PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 ( ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. WDR35 gene 
    ... one or more organs, including the heart, kidneys, liver, and intestines. The severity of this condition is thought to be caused by ... PubMed SHORT-RIB THORACIC DYSPLASIA 7 ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  5. CYLD gene 
    ... the bone marrow (multiple myeloma), salivary glands, kidneys, liver, colon, or uterus. These mutations result in a reduction of CYLD gene ... CYLD LYSINE-63 DEUBIQUITINASE; CYLD ...
    https://medlineplus.gov/genetics/gene/cyld - Genetics
  6. PYGL gene 
    ... cells cannot use glycogen for energy, so liver function becomes impaired. A lack of glycogen breakdown within liver cells leads to the major features of GSDVI. ... GLYCOGEN PHOSPHORYLASE, LIVER; PYGL NCBI ...
    https://medlineplus.gov/genetics/gene/pygl - Genetics
  7. SMPD1 gene 
    ... and eventually die. Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in ... PubMed SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  8. MAT1A gene 
    ... adenosyltransferase enzyme. A reduction in the enzyme's function results in a buildup of methionine in the body and less efficient AdoMet ... METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A ...
    https://medlineplus.gov/genetics/gene/mat1a - Genetics
  9. DGUOK gene 
    ... DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to ... DEOXYGUANOSINE KINASE; DGUOK NCBI Gene ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  10. GNMT gene 
    ... GNMT gene variants likely impair glycine N-methyltransferase functions such as processing potential cancer-causing substances in the ... GLYCINE N-METHYLTRANSFERASE; GNMT NCBI ...
    https://medlineplus.gov/genetics/gene/gnmt - Genetics
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