An algorithm to predict phenotypic severity in mucopolysaccharidosis type i in the first month of life

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Kingma, Sandra D K ^a   Langereis, Eveline J ^a   De Klerk, Clasine M ^a   Zoetekouw, Lida ^a   Wagemans, Tom ^a   Ijlst, Lodewijk ^a   Wanders, Ronald J A ^a   Wijburg, Frits A ^a   Van Vlies, Naomi ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Classification; Disease severity; Enzyme replacement therapy; Haematopoietic stem cell transplantation; Iduronidase; Mucopolysaccharidosis type I; Newborn screening; Phenotype; Residual enzyme activity

Indexed keywords

DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; LEVO IDURONIDASE;

AIRWAY OBSTRUCTION; ALGORITHM; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ENZYME REPLACEMENT; FIBROBLAST CULTURE; GENE INSERTION; GENOTYPE; HEARING IMPAIRMENT; HEPATOMEGALY; HETEROZYGOSITY; HIP DYSPLASIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; HURLER SYNDROME; HYDROCEPHALUS; INGUINAL HERNIA; KYPHOSIS; MACROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN PERIOD; NEWBORN SCREENING; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTIVE VALUE; SCOLIOSIS; SENSITIVITY AND SPECIFICITY; SKIN FIBROBLAST; SPLENOMEGALY; UMBILICAL HERNIA; CELL CULTURE; DEFICIENCY; ENZYMOLOGY; FIBROBLAST; GENETICS; METABOLISM; MUCOPOLYSACCHARIDOSIS I;

ALGORITHMS; CELLS, CULTURED; FIBROBLASTS; GLYCOSAMINOGLYCANS; HUMANS; IDURONIDASE; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSIS I; PHENOTYPE;

EID: 84880003449     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-99     Document Type: Article

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