Inheritance, Biochemical Abnormalities, and Clinical Features of Feline Mucolipidosis II: The First Animal Model of Human I-Cell Disease

Journal of Heredity

Volumn 94, Issue 5, 2003, Pages 363-373

  Mazrier, H ^a   Van Hoeven, M ^a   Wang, P ^a   Knox, V W ^a   Aguirre, G D ^b   Holt, E ^a   Wiemelt, S P ^a   Sleeper, M M ^a   Hubler, M ^c   Haskins, M E ^a   Giger, Urs ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Department of Obstetrics Gynecology   (United States)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ENZYME; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BEHAVIOR DISORDER; BLINDNESS; BONE BOWING; CAT DISEASE; CAUSE OF DEATH; CELL INCLUSION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE MODEL; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFECT; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; FIBROBLAST CULTURE; HEART FAILURE; HETEROZYGOTE; INTERNALIZATION; JOINT LAXITY; LYSOSOME; LYSOSOME STORAGE DISEASE; MALE; METAPHYSIS; MORTALITY; MUCOLIPIDOSIS TYPE 2; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RADIUS; RESPIRATORY TRACT DISEASE; RETINA DEGENERATION; SKELETON RADIOGRAPHY; SPINE FUSION;

ANIMALS; CATS; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; LYSOSOMAL STORAGE DISEASES; MALE; MUCOLIPIDOSES; PEDIGREE; RETINA; TIME FACTORS;

ANIMALIA; FELIDAE; FELIS CATUS;

EID: 10744232360     PISSN: 00221503     EISSN: None     Source Type: Journal    
DOI: 10.1093/jhered/esg080     Document Type: Article

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