Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 2, 2010, Pages 82-83

  Michelakakis, Helen ^a   Dimitriou, Evangelia ^a   Moraitou, Marina ^a   Valari, Mantoula ^b   Yatrakou, Erasmia ^c   Mitsiadi, Vassiliki ^b   Cozar, Monica ^d   Vilageliu, Lluisa ^d   Grinberg, Daniel ^d   Karachristou, Korina ^c  

^a Institute of Child Health   (Greece)

^b Department of Dermatology ^*

^c Ag Sophia Children's Hospital   (Greece)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; CHITOTRIOSIDASE;

ARTIFICIAL VENTILATION; CASE REPORT; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; ECHOGRAPHY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FETUS HYDROPS; GAUCHER DISEASE; GENETIC ASSOCIATION; GRAND MAL SEIZURE; GREECE; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; LETTER; MALE; MUTATIONAL ANALYSIS; NEWBORN; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION;

BETA-GLUCOSIDASE; BRAIN; DEATH; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; FEMALE; GAUCHER DISEASE; GREECE; HEXOSAMINIDASES; HUMANS; INFANT, NEWBORN; MALE; SKIN;

EID: 74849113918     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.11.007     Document Type: Letter

References (6)

1. Tybulewicz V.L.J., Tremblay M.L., LaMarca M.E., Willemsen R., Stubblefield B.K., Winfield S., Zablocka B., Sidransky E., Martin B.M., Huang S.P., Mintzer K.A., Westphal H., Mulligan R.C., and Ginns E.I. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357 (1992) 407-410
2. Sidransky E., Sherer D.M., and Ginns E.I. Gaucher disease in a neonate: a distinct Gaucher phenotype analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr. Res. 32 (1992) 494-498
3. Eblan M.J., Goker-Alpan O., and Sidransky E. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Fetal. Ped. Pathol. 24 (2005) 205-222
4. Mignot D., Gelot A., Bessieres B., Daffos F., Voyer M., Menez F., Fallet Bianco C., Odent S., Le Duff D., Loget P., Fargier P., Costil J., Jossef P., Roume J., Vanier M.T., Maire I., and Billette de Villemeur T. Perinatal-lethal Gaucher disease. Am. J. Med. Genet. 120A (2003) 338-344
5. Oshima T., Sasaki M., Matsuzaka T., and Sakuragowa N. A novel splicing abnormality in a Japanese patient with Gaucher's disease. Hum. Mol. Genet. 2 (1993) 1497-1498
6. Felderhoff-Mueser U., Uhl J., Penzel R., van Galdeghem F., Vogel M., Obladen M., and Kopitz J. Intrauterine onset of acute neuronopathic type 2 Gaucher disease: identification of a novel insertion sequence. Am. J. Med. Genet. 128A (2004) 138-143