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Results 11 - 20 of 1,161 for patient
  1. SAA1 gene 
    ... and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. ... SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003 Apr; ...
    https://medlineplus.gov/genetics/gene/saa1 - Genetics
  2. Niemann-Pick disease 
    ... Lefeber D, Poorthuis BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012 Nov;107(3):526- ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  3. Glutaric acidemia type I 
    ... JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet ... CR. Oxidative damage in glutaric aciduria type I patients and the protective effects of l-carnitine treatment. ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  4. Glutaric acidemia type II 
    ... sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. ... Olsen RK. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii - Genetics
  5. Prolidase deficiency 
    ... delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am ... E, Cetta G. Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  6. Mitochondrial trifunctional protein deficiency 
    ... S. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian ... HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab. ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
  7. COL7A1 gene 
    ... of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 ... G, Colombi M. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2002 ...
    https://medlineplus.gov/genetics/gene/col7a1 - Genetics
  8. Chromosome 2 
    ... Dennis NR, Trembath RC. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion ... Kimonis VE, Holt L, Murata-Collins JL. A patient with a ring chromosome 2 and microdeletion of ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  9. RPL5 gene 
    ... and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat. 2009 Mar; ... of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. Pediatr Blood Cancer. 2014 ...
    https://medlineplus.gov/genetics/gene/rpl5 - Genetics
  10. ASS1 gene 
    ... the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Hum Mutat. 2017 ... and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat. 2003 Jul;22(1):24-34. ...
    https://medlineplus.gov/genetics/gene/ass1 - Genetics
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