A case of galactosialidosis with a homozygous Q49R point mutation

Brain and Development

Volumn 30, Issue 9, 2008, Pages 595-598

  Matsumoto, Naoko ^a,c   Gondo, Kenjiro ^a   Kukita, Johji ^a   Higaki, Katsumi ^b   Paragison, Rubigilda C ^b   Nanba, Eiji ^b  

^a Kitakyushu Municipal Hospital   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c OITA PREFECTURAL HOSPITAL   (Japan)

Author keywords

Fetal hydrops; Galactosialidosis; Homozygous mutation; Lysosomal storage disease

Indexed keywords

BETA GALACTOSIDASE; CARBOXYPEPTIDASE C; DOPAMINE; FENTANYL CITRATE; FUROSEMIDE; ISOPRENALINE; LYSOSOME ENZYME; NITROXIDE; SIALIDASE; SURFACTANT; VECURONIUM;

ARTICLE; ARTIFICIAL VENTILATION; ASCITES; AUTOPSY; CASE REPORT; DISEASE CLASSIFICATION; EDEMA; ENZYME DEFICIENCY; FEMALE; FETUS HYDROPS; GALACTOSIALIDOSIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; INFANT; KIDNEY FAILURE; LYSOSOME STORAGE DISEASE; NEONATAL RESPIRATORY DISTRESS SYNDROME; ONSET AGE; PERSISTENT PULMONARY HYPERTENSION; PLEURA EFFUSION; POINT MUTATION; PROGNOSIS;

BETA-GALACTOSIDASE; BRAIN; CARBOXYPEPTIDASE C; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; HYDROPS FETALIS; INFANT; INFANT, NEWBORN; KIDNEY; LIVER; LYSOSOMAL STORAGE DISEASES; MYOCARDIUM; NEURAMINIDASE; POINT MUTATION;

EID: 49749095636     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.01.012     Document Type: Article

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