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Results 1 - 10 of 238 for Biochemical
  1. Arginine:glycine amidinotransferase deficiency 
    ... Craigen WJ, Renaud D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients with cerebral ... M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42( ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  2. Aldosterone-producing adenoma 
    ... charge across the cell membrane, which affects certain biochemical processes. In adrenal gland cells, this flow of ... charges across cell membranes. These abnormalities overactivate a biochemical process that increases adrenal cell growth and division ( ...
    https://medlineplus.gov/.../condition/aldosterone-producing-adenoma - Genetics
  3. Adenylosuccinate lyase deficiency 
    ... Lde Z, Lee P, Antonopoulos C, Colman RF. Biochemical and biophysical analysis of five disease-associated human ... Ghosh K, Patterson D, Pegan SD. Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
  4. HSD17B4 gene 
    ... an enzyme, which means that it helps specific biochemical reactions take place. D-bifunctional protein is so named because it aids in two biochemical reactions.The D-bifunctional protein is found in ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  5. MT-ATP6 gene 
    ... AL, Pinos T, Garcia-Arumi E. Identification and biochemical characterization of the novel mutation m.8839G>C ... MJ. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  6. ADSL gene 
    ... Lde Z, Lee P, Antonopoulos C, Colman RF. Biochemical and biophysical analysis of five disease-associated human ... Ghosh K, Patterson D, Pegan SD. Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the ...
    https://medlineplus.gov/genetics/gene/adsl - Genetics
  7. Learning about Osteogenesis Imperfecta From the National Institutes of Health (National Human Genome Research Institute)  
    Osteogenesis Imperfecta/Genetics ... Osteogenesis Imperfecta ... Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often ...
    https://www.genome.gov/Genetic-Disorders/Osteogenesis-Imperfecta - External Health Links
  8. D-bifunctional protein deficiency 
    ... an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein ... PG, Wanders RJ, Poll-The BT. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
  9. X-linked creatine deficiency 
    ... Craigen WJ, Renaud D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients with cerebral ... M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42( ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  10. Fumarase deficiency 
    ... Knape M, Zierz S, Gellerich FN. Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab. 2006 ... Y, Toulhoat H, de Lonlay P. Clinical and biochemical heterogeneity associated with fumarase deficiency. Hum Mutat. 2011 ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
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