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Results 81 - 90 of 1,161 for patient
  1. Succinyl-CoA:3-ketoacid CoA transferase deficiency 
    ... succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_ ... Kondo N. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) ...
    https://medlineplus.gov/...-coa3-ketoacid-coa-transferase-deficiency - Genetics
  2. IRAK-4 deficiency 
    ... hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med. 2003 ... C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. ...
    https://medlineplus.gov/genetics/condition/irak-4-deficiency - Genetics
  3. Mucopolysaccharidosis type I 
    ... findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007 ... I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  4. 46,XX testicular difference of sex development 
    ... I, Bettendorf M. Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. J Pediatr ... Clinical and molecular analysis of XX sex reversed patients. J Urol. 1998 Sep;160(3 Pt 2): ...
    https://medlineplus.gov/...-testicular-difference-of-sex-development - Genetics
  5. Beare-Stevenson cutis gyrata syndrome 
    ... Bueno MR. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet A. ... Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet. ...
    https://medlineplus.gov/.../beare-stevenson-cutis-gyrata-syndrome - Genetics
  6. Beta-ureidopropionase deficiency 
    ... Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of ... phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. 2012 Jul;1822(7):1096- ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  7. Sandhoff disease 
    ... Kissell J, Cox GF, Fischer T, Hamed A. Patient and caregiver perspectives on burden of disease manifestations ... infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  8. GM2 activator deficiency 
    ... juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c. ... variant: clinical and biochemical studies of a Japanese patient. Neurology. 1999 Jan 15;52(2):372-7. ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  9. Renal tubular acidosis with deafness 
    ... S, Pela I. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. ... atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. Int J Pediatr ...
    https://medlineplus.gov/.../renal-tubular-acidosis-with-deafness - Genetics
  10. Mucopolysaccharidosis type VI 
    ... Giugliani R. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004 Sep; ... Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metab. 2007 ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
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