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Results 1 - 8 of 8 for Proton
  1. Hereditary folate malabsorption 
    ... provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for ... A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  2. Renal tubular acidosis with deafness 
    ... as pumps to move positively charged hydrogen atoms (protons) across membranes. Because acids are substances that can "donate" protons to other molecules, this movement of protons helps ...
    https://medlineplus.gov/.../renal-tubular-acidosis-with-deafness - Genetics
  3. Isolated hyperchlorhidrosis 
    ... a positively charged hydrogen atom (known as a proton). The presence of protons and bicarbonate affect the relative acidity (pH) of ...
    https://medlineplus.gov/.../condition/isolated-hyperchlorhidrosis - Genetics
  4. Dent disease 
    ... PubMed Central Devuyst O. Dent's disease: chloride-proton exchange controls proximal tubule endocytosis. Nephrol Dial Transplant. ...
    https://medlineplus.gov/genetics/condition/dent-disease - Genetics
  5. GABA-transaminase deficiency 
    ... new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis. 2010 Feb; ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
  6. Leigh syndrome 
    ... LM, Carelli V, Solaini G. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  7. Adult polyglucosan body disease 
    ... Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel ...
    https://medlineplus.gov/.../adult-polyglucosan-body-disease - Genetics
  8. Canavan disease 
    ... P. Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics