Early-infantile galactosialidosis : Prenatal presentation and postnatal follow-up

Author

PATEL, M. S¹ ; CALLAHAN, J. W² ; RYAN, G⁵ ; VELSHER, L⁶ ; CHITAYAT, D¹ ; SUNQU ZHANG² ; CHAN, A. K. J¹ ; UNGER, S¹ ; LEVIN, A. V³ ; SKOMOROWSKI, M.-A² ; FEIGENBAUM, A. S¹ ; O'BRIEN, K⁴ ; HELLMANN, J⁴
[1] Division of Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[2] Lab Medicine and Pathobiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[3] Division of Ophthalmology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[4] Neonatal Intensive Care Unit, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[5] Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
[6] Department of Medical Genetics, Oshawa General Hospital, Oshawa, Ontario, Canada

Source

American journal of medical genetics. = Neuropsychiatric genetics. 1999, Vol 85, Num 1, pp 38-47 ; ref : 1 p.3/4

CODEN

AJMGDA

ISSN

0148-7299

Scientific domain

Genetics

Publisher

Wiley-Liss, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Diagnostic Déficit Enfant Etude cas Evolution Exo-α-sialidase Phénotype Prénatal β-Galactosidase Galactosialidose Enzyme Enzymopathie Glycosidases Homme Hydrolases Maladie héréditaire Métabolisme pathologie O-Glycosidases

Keyword (en)

Diagnosis Deficiency Child Case study Evolution Exo-α-sialidase Phenotype Prenatal β-Galactosidase Galactosialidosis Enzyme Enzymopathy Glycosidases Human Hydrolases Genetic disease Metabolic diseases O-Glycosidases

Keyword (es)

Diagnóstico Déficiencia Niño Estudio caso Evolución Exo-α-sialidase Fenotipo Prenatal β-Galactosidase Enzima Enzimopatía Glycosidases Hombre Hydrolases Enfermedad hereditaria Metabolismo patología O-Glycosidases

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D03 Carbohydrates (enzymatic deficiencies). Glycogenosis

Discipline

Metabolic diseases

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

1857954

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS