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Clinical Genetics
|
April 1, 1985
Velo-cardio-facial syndrome presenting as holoprosencephaly
J E Wraith, M Super, G H Watson, et al.
Journal of Inherited Metabolic Disease
|
September 25, 2010
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
Anupam Chakrapani, Ashok Vellodi, Peter Robinson, et al.
The Journal of Bone and Joint Surgery. British Volume
|
November 1, 1996
Spinal problems in mucopolysaccharidosis I (Hurler syndrome)
V Tandon, J B Williamson, R A Cowie, et al.
Clinical Cardiology
|
June 1, 1987
Endocardial fibroelastosis in mucopolysaccharidosis type VI
L V Fong, S Menahem, J E Wraith, et al.
Clinical Genetics
|
May 6, 2011
The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome)
D Seshadri, S Jones, K Burt, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Common MCAD mutation in a healthy parent of two affected siblings
L E Heptinstall, J Till, J E Wraith, et al.
Archives of Disease in Childhood
|
November 23, 2005
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
J Fraser, A A Gason, J E Wraith, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Galactosaemia: relationship of IQ to biochemical control and genotype
M A Cleary, L E Heptinstall, J E Wraith, et al.
Journal of Inherited Metabolic Disease
|
June 16, 2007
Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation
R S Arora, J Mercer, M Thornley, et al.
Clinical Dysmorphology
|
May 11, 2002
Facial appearance in glycogen storage disease type III
M A Cleary, J H Walter, B A Kerr, et al.
Page
of 12
Search research articles
Search
Showing results (41-50 of 115) with videos related to
Sort By:
Page
of 12
Clinical Genetics
|
April 1, 1985
Velo-cardio-facial syndrome presenting as holoprosencephaly
J E Wraith, M Super, G H Watson, et al.
Journal of Inherited Metabolic Disease
|
September 25, 2010
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
Anupam Chakrapani, Ashok Vellodi, Peter Robinson, et al.
The Journal of Bone and Joint Surgery. British Volume
|
November 1, 1996
Spinal problems in mucopolysaccharidosis I (Hurler syndrome)
V Tandon, J B Williamson, R A Cowie, et al.
Clinical Cardiology
|
June 1, 1987
Endocardial fibroelastosis in mucopolysaccharidosis type VI
L V Fong, S Menahem, J E Wraith, et al.
Clinical Genetics
|
May 6, 2011
The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome)
D Seshadri, S Jones, K Burt, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Common MCAD mutation in a healthy parent of two affected siblings
L E Heptinstall, J Till, J E Wraith, et al.
Archives of Disease in Childhood
|
November 23, 2005
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
J Fraser, A A Gason, J E Wraith, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Galactosaemia: relationship of IQ to biochemical control and genotype
M A Cleary, L E Heptinstall, J E Wraith, et al.
Journal of Inherited Metabolic Disease
|
June 16, 2007
Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation
R S Arora, J Mercer, M Thornley, et al.
Clinical Dysmorphology
|
May 11, 2002
Facial appearance in glycogen storage disease type III
M A Cleary, J H Walter, B A Kerr, et al.
Page
of 12