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Results 1 - 10 of 151 for Protein Z deficiency
  1. Mitochondrial trifunctional protein deficiency 
    ... Citation on PubMed Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta- ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
  2. HADHB gene 
    ... on PubMed Central Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta- ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
  3. HADHA gene 
    ... on PubMed Central Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta- ...
    https://medlineplus.gov/genetics/gene/hadha - Genetics
  4. Metachromatic leukodystrophy 
    ... PubMed Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M. Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  5. PSAP gene 
    ... ClinVar Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M. Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  6. CLN1 disease 
    ... Nov 24. Citation on PubMed Kim SJ, Zhang Z, Sarkar C, Tsai PC, Lee YC, Dye L, Mukherjee AB. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  7. PPT1 gene 
    ... Nov 24. Citation on PubMed Kim SJ, Zhang Z, Sarkar C, Tsai PC, Lee YC, Dye L, Mukherjee AB. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  8. Alpha-1 antitrypsin deficiency 
    ... S allele produces moderately low levels of this protein, and the Z allele ... antitrypsin deficiency. Those with the SZ combination have an increased ...
    https://medlineplus.gov/.../condition/alpha-1-antitrypsin-deficiency - Genetics
  9. KANK2 gene 
    ... PubMed KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING ... Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J ...
    https://medlineplus.gov/genetics/gene/kank2 - Genetics
  10. Ataxia with vitamin E deficiency 
    ... 130-7. doi: 10.1007/s10072-004-0246-z. Citation on PubMed Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45( ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
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