TY - JOUR
T1 - Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal α-neuraminidase
AU - Loren, David J.
AU - Campos, Yvan
AU - d'Azzo, Alessandra
AU - Wyble, Lance
AU - Grange, Dorothy K.
AU - Gilbert-Barness, Enid
AU - White, Frances V.
AU - Hamvas, Aaron
N1 - Funding Information:
We thank Kim Detjen MSW at St. Louis Children’s Hospital NICU for providing support to the family and care team. Supported by NIH DK52025, GM60950, Assisi Foundation of Memphis, the Cancer Center Support Grant CA21765, and the American Lebanese Syrian Associated Charities (ALSAC) (Ad’A & YC); NIH HL-65174 (AH). Ad’A holds an Endowed Chair in Genetics and Gene Therapy from the Jeweler Charity Fund.
PY - 2005/7
Y1 - 2005/7
N2 - Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal α-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis.
AB - Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal α-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis.
UR - http://www.scopus.com/inward/record.url?scp=22144447116&partnerID=8YFLogxK
U2 - 10.1038/sj.jp.7211335
DO - 10.1038/sj.jp.7211335
M3 - Article
C2 - 15908988
AN - SCOPUS:22144447116
SN - 0743-8346
VL - 25
SP - 491
EP - 494
JO - Journal of Perinatology
JF - Journal of Perinatology
IS - 7
ER -