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  1. Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1162
    ... J Pediatr. 2015;41:A17. Clarke LA. The mucopolysaccharidoses: prenatal diagnosis, neonatal screening and emerging therapies. In: A Milunsky and J Milunsky, eds. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 8 ed. Hoboken, NJ: Wiley-Blackwell; ...
  2. Mucopolysaccharidosis Type IVA - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148668
    ... Search term GeneReviews Advanced Search Help < Prev Next > Mucopolysaccharidosis Type IVA Synonyms: Morquio A Disease, Morquio Syndrome ... with germline pathogenic variants in GALNS. Differential Diagnosis Mucopolysaccharidosis type IVB (MPS IVB; see GLB1 -Related Disorders ) ...
  3. Mucopolysaccharidosis Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1274
    ... Search term GeneReviews Advanced Search Help < Prev Next > Mucopolysaccharidosis Type II Synonyms: Hunter Syndrome, Iduronate-2-Sulfatase ... Estimated reading time: 32 minutes Summary Clinical characteristics. Mucopolysaccharidosis type II (MPS II; also known as Hunter ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Mucopolysaccharidosis type I</name><ghr-page >https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i</ghr-page><text-list ><text ><text- ...
  5. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... al. Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast ... trial of fibroblast transplantation for the treatment of mucopolysaccharidoses. J Inherit Metab Dis. 1983; 6 (2):62– ...
  6. Alpha-Mannosidosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1396
    ... untreated individuals have typical Hurler-like facies (see Mucopolysaccharidosis Type 1 ) or coarse facial features, macrocephaly with ... overlap with other lysosomal storage disorders (e.g., mucopolysaccharidosis type I and II). However, the distinctive clinical ...
  7. Clinical evidence – search strategies - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355386
    ... or cat cry syndrome/ or down syndrome/ or mucopolysaccharidosis/ or phenylketonuria/ or pyruvate dehydrogenase/ or rubinstein syndrome/ ... lesch-nyhan syndrome/ or fragile x syndrome/ or mucopolysaccharidoses/ or exp phenylketonurias/ or exp prader-willi syndrome/ ...
  8. Health economic evidence – search strategies - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355387
    ... or cat cry syndrome/ or down syndrome/ or mucopolysaccharidosis/ or phenylketonuria/ or pyruvate dehydrogenase/ or rubinstein syndrome/ ... lesch-nyhan syndrome/ or fragile x syndrome/ or mucopolysaccharidoses/ or exp phenylketonurias/ or exp prader-willi syndrome/ ...
  9. Cockayne Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1342
    ... Gene Locus Links Similar articles in PubMed Review Mucopolysaccharidosis Type I. [GeneReviews(®). 1993] Review Mucopolysaccharidosis Type I. Clarke LA. GeneReviews(®). 1993 Review SLC6A3- ...
  10. Adenine Phosphoribosyltransferase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100238
    ... APRT and GALNS , pathogenic variants in which cause mucopolysaccharidosis type IVA , have been reported [ Fukuda et al ... Imaizumi K, Kuroki Y, Okabe T, Orii T. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a ...
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