First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

Molecular Genetics and Metabolism

Volumn 114, Issue 2, 2015, Pages 203-208

  Fox, Joyce E ^a   Volpe, Linda ^b   Bullaro, Josephine ^b   Kakkis, Emil D ^c   Sly, William S ^d  

^a Hofstra Northwell Steven and Alexandra Cohen Children s Medical Center of NY Northwell Health   (United States)

^b St Mary's Hospital for Children   (United States)

^c ULTRAGENYX PHARMACEUTICAL INC   (United States)

^d SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Enzyme replacement therapy; Hepatosplenomegaly; Mucopolysaccharidosis type VII; Physician global impression of change; Pulmonary function; Sly syndrome

Indexed keywords

CARBON DIOXIDE; GLYCOSAMINOGLYCAN; RECOMBINANT BETA GLUCURONIDASE; BETA GLUCURONIDASE; DERMATAN SULFATE; HEPARAN SULFATE;

ARTICLE; CASE REPORT; CHILD; DRUG FEVER; DRUG SAFETY; DRUG TOLERABILITY; END TIDAL CARBON DIOXIDE TENSION; ENZYME REPLACEMENT; ERYTHEMA; EXPERIMENTAL THERAPY; FATIGUE; GROWTH RATE; HEART VALVE; HUMAN; INFUSION RELATED REACTION; LIVER SIZE; LUNG FUNCTION; MALE; MUCOPOLYSACCHARIDOSIS TYPE 7; OXYGEN CONSUMPTION; OXYGEN THERAPY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; QUALITY OF LIFE; RESPIRATORY FAILURE; SCHOOL CHILD; SPLEEN SIZE; TRACHEOSTOMY; WEIGHT GAIN; BODY WEIGHT; DRUG EFFECTS; GENETICS; HEPATOMEGALY; INTRAVENOUS DRUG ADMINISTRATION; MUCOPOLYSACCHARIDOSIS VII; PATHOLOGY; PATHOPHYSIOLOGY; SPLENOMEGALY; URINE;

ADMINISTRATION, INTRAVENOUS; BODY WEIGHT; CHILD; DERMATAN SULFATE; ENZYME REPLACEMENT THERAPY; GLUCURONIDASE; GLYCOSAMINOGLYCANS; HEPARITIN SULFATE; HEPATOMEGALY; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS VII; QUALITY OF LIFE; SPLENOMEGALY; THERAPIES, INVESTIGATIONAL;

EID: 84921632716     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.10.017     Document Type: Article

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