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Results 1 - 10 of 66 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. 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
  3. 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
  4. 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
  5. 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
  6. Hypermethioninemia 
    ... R, LeGros L, Kotb M, Capdevila A, Luka Z, Finkelstein JD, Tangerman A, Stabler SP, Allen RH, Wagner C. ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  7. Peroxisomal acyl-CoA oxidase deficiency 
    ... straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for ... Peroxisomal acyl CoA oxidase deficiency. J Pediatr. 2002 Jan;140(1):128-30. ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  8. Pyruvate dehydrogenase deficiency 
    ... deficiency Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency Pyruvate ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  9. ZAP70-related severe combined immunodeficiency 
    ... T-cell defect ZAP70-related SCID Zeta-associated protein 70 deficiency Genetic Testing Registry: Combined immunodeficiency due to ZAP70 ... Rare Disorders (NORD) ClinicalTrials.gov ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ... PubMed Elder ME. SCID due to ZAP-70 deficiency. J Pediatr Hematol Oncol. 1997 Nov-Dec;19( ...
    https://medlineplus.gov/...-related-severe-combined-immunodeficiency - Genetics
  10. Warfarin resistance 
    ... Is there a role for MDR1, EPHX1 and protein Z gene variants in modulation of warfarin dosage? a ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
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