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Results 1 - 8 of 8 for Acid phosphatase deficiency
  1. ACP5 gene 
    ... Janckila A, Lebon P, Crow YJ. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a ... Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics
  2. Spondyloenchondrodysplasia with immune dysregulation 
    ... Janckila A, Lebon P, Crow YJ. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a ... Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  3. Pyruvate dehydrogenase deficiency 
    ... dehydrogenase complex deficiency. Structural implications of novel amino acid ... phosphatase deficiency: identification of the first mutation in two brothers ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  4. PDP1 gene 
    ... very rare cause of this condition. Pyruvate dehydrogenase deficiency is ... dehydrogenase phosphatase 1 protein, which is thought to change its ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics
  5. Glycogen storage disease type I 
    ... Registry: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Genetic Testing Registry: Glycogen storage disease, ... I Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose- ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  6. EPM2A gene 
    ... Roach AA, Roach PJ. Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen ...
    https://medlineplus.gov/genetics/gene/epm2a - Genetics
  7. PIGV gene 
    ... Y, Kinoshita T. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J ...
    https://medlineplus.gov/genetics/gene/pigv - Genetics
  8. Partnering with Your Transplant Team: The Patient's Guide to Transplantation (Health Resources and Services Administration) (United Network for Organ Sharing) - PDF  
    Organ Transplantation/Start Here ... Organ Transplantation ... Health Resources and Services Administration ... United Network for Organ Sharing ... PDF
    https://www.unos.org/.../unos/PartneringWithTransplantTeam.pdf - External Health Links