Search Results - "Navarrete, J I"
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Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome
Published in Clinical genetics (01-05-2016)“…Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational…”
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Headache and Behçet disease: The hidden enemy
Published in Revista clínica espanõla (English edition) (01-03-2019)Get full text
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Mexican consensus on lysosomal acid lipase deficiency diagnosis
Published in Revista de gastroenterologia de Mexico (English) (01-01-2018)“…INTRODUCTIONLysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and…”
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Conference Proceeding -
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Mexican consensus on lysosomal acid lipase deficiency diagnosis
Published in Revista de Gastroenterología de México (English Edition) (01-01-2018)“…Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and…”
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Journal Article -
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Serum atypical pseudocholinesterase and leprosy
Published in International journal of dermatology (01-12-1979)“…The frequency of the serum atypical pseudochloinesterase variant was significantly higher (p less than 0.005) in a group of 115 lepromatous leprosy patients…”
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Distribution of ABO blood groups and other genetic markers in mothers of infants with congenital malformations
Published in Human heredity (01-01-1982)“…The distribution of ABO and Rh (antigen D) blood groups and of serum albumin, haptoglobin and transferrin variants, in a group of mothers of malformed newborns…”
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Variability between and within laboratories in the analysis of structural chromosomal abnormalities
Published in Clinical genetics (01-05-1979)“…The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different…”
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8
Headache and Behçet disease: The hidden enemy
Published in Revista clínica espanõla (English edition) (01-03-2019)Get full text
Journal Article -
9
Longitudinal study on the frequency of structural chromosome abnormalities in twenty normal subjects (author's transl)
Published in Revista de investigacion clinica (01-10-1975)Get more information
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Trico-rhino-phalangeal syndrome. Description of two cases in two Mexican families (author's transl)
Published in Revista de investigacion clinica (01-10-1978)Get more information
Journal Article