E. Young

M. Jackson, E. Young, B. Winchester, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells

K. Sandhoff, M. Schröder, E. Young, 1993, Human Genetics.

An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

V. P. Misra, A. Harding, P. Thomas, 1991, Journal of neurology, neurosurgery, and psychiatry.

Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.

A. Harding, E. Young, F. Schon, 1987, Journal of neurology, neurosurgery, and psychiatry.

Hexosaminidase A deficiency presenting as juvenile progressive dystonia.

E. Young, R. Hardie, J. Morgan-Hughes, 1988, Journal of neurology, neurosurgery, and psychiatry.

Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

R. King, P. Thomas, E. Young, 1989, Journal of neurology, neurosurgery, and psychiatry.

Deficiency of Acid Esterase Activity in Wolman's Disease

E. Young, A. D. Patrick, 1970, Archives of disease in childhood.

Fucosidosis: genetic and biochemical analysis of eight cases.

E. Young, B. Winchester, H. Cragg, 1997, Journal of medical genetics.

[Wolman's disease].

E. Young, J. Cuevas, A. G. Gómez García, 1987, Anales espanoles de pediatria.

A 5' splice site mutation in fucosidosis.

K. Kretz, P. Willems, E. Young, 1993, Journal of medical genetics.

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

K. Mills, P. Clayton, M. Jackson, 2005, Journal of Inherited Metabolic Disease.

Prenatal tests for Sanfilippo disease type B in four pregnancies

V. D. Der Kaloustian, E. Young, J. Mossman, 1983, Prenatal Diagnosis.

Prenatal diagnosis of Hurler disease by analysis of α-iduronidase in chorionic villi

E. Young, 1992, Journal of Inherited Metabolic Disease.

Fetal presentation of morquio disease type A

A. Sewell, E. Merz, E. Young, 1992, Prenatal diagnosis.

Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay

W. Kleijer, E. Young, O. V. van Diggelen, 1990, Prenatal Diagnosis.

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

C. Beesley, M. Jackson, E. Young, 2003, Journal of medical genetics.

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

E. Young, B. Winchester, C. Meaney, 1995, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy

E. Young, B. Lake, K. Nicolaides, 1989, Journal of Inherited Metabolic Disease.

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

C. Beesley, E. Young, A. Vellodi, 1998, Journal of medical genetics.

Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi.

E. Young, 1992, Journal of inherited metabolic disease.

Prenatal diagnosis of the carbohydrate‐deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

P. Clayton, E. Young, B. Winchester, 1998, Prenatal diagnosis.

Prenatal diagnosis of enzyme defects--an update.

E. Young, B. Winchester, 1991, Archives of disease in childhood.

Galactocerebrosidase Deficiency in Globoid Cell Leucodystrophy of Late Onset

E. Young, L. Crome, A. D. Patrick, 1972, Archives of disease in childhood.

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.

Chi-kong Li, T. Fok, K. To, 2003, Molecular genetics and metabolism.

Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.

E. Young, D. Donnai, R. Harris, 1981, Journal of medical genetics.

Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

T. Jenkins, E. Young, A. Lane, 1980, American journal of human genetics.

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

C. Beesley, E. Young, A. Vellodi, 2000, Journal of medical genetics.

Multiple sulphatase deficiency: Prenatal diagnosis using chorionic villi

E. Young, A. D. Patrick, Cheryl Ellis, 1988, Prenatal diagnosis.

MUCOPOLYSACCHARIDOSIS-II (HUNTER DISEASE) IN A FEMALE TWIN

S. Malcolm, E. Young, B. Winchester, 1990 .