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Results 1 - 10 of 87 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. 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
  5. 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
  6. 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
  7. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... D, Holcik M, Harper ME, Lines MA. Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial ... Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  8. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... TE, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  9. Argininosuccinic aciduria 
    ... Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal ... Craigen WJ. A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan;78(1): ...
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria - Genetics
  10. Carnitine palmitoyltransferase II deficiency 
    ... Pourfarzam M, Rahman S, Pollitt RJ. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) ... Zierz S. Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. Neurology. 2003 Apr 22; ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
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