Clinical and biochemical manifestations of hyaluronidase deficiency.
Natowicz
M R
MR
Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254, USA.
Short
M P
MP
Wang
Y
Y
Dickersin
G R
GR
Gebhardt
M C
MC
Rosenthal
D I
DI
Sims
K B
KB
Rosenberg
A E
AE
D000293:Adolescent; D000842:Ankle / Q000473:pathology; D005260:Female; D005385:Fingers / Q000473:pathology; D006130:Growth Disorders / Q000209:etiology; D006644:Histiocytes; D006801:Humans; D006820:Hyaluronic Acid / Q000378:metabolism; D006821:Hyaluronoglucosaminidase / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D008854:Microscopy, Electron; D010384:Pelvic Bones / Q000473:pathology
D006820:Hyaluronic Acid; D006821:Hyaluronoglucosaminidase