Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

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. 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
  8. X-linked adrenoleukodystrophy 
    ... adrenoleukodystrophy, but medical testing may show brain or biochemical abnormalities. Some individuals with the asymptomatic form may ... Berger J, Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta. 2006 Dec; ...
    https://medlineplus.gov/.../condition/x-linked-adrenoleukodystrophy - Genetics
  9. Carbonic anhydrase VA deficiency 
    ... four affected mitochondrial enzymes, resulting in the various biochemical abnormalities associated with carbonic anhydrase VA deficiency. These ... 649. Citation on PubMed Haberle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  10. Warsaw breakage syndrome 
    ... RM Jr, Megarbane A, Kibar Z. Identification and biochemical characterization of a novel mutation in DDX11 causing ... Khan I, de Winter JP, Brosh RM Jr. Biochemical characterization of Warsaw breakage syndrome helicase. J Biol ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · next