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Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University

New Zealand veterinary journal, 2021-07, Vol.69 (5), p.255-266

2021

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Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Journal of medical genetics, 2004-07, Vol.41 (7), p.550-556

2004

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Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.759-767

2005

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Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Human genetics, 2001-11, Vol.109 (5), p.503-511

2001

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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.416-423

2009

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

Journal of medical genetics, 2003-03, Vol.40 (3), p.192-194

2003

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Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

Annals of clinical biochemistry, 1999-01, Vol.36 ( Pt 1) (1), p.20-36

1999

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Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx

Journal of inherited metabolic disease, 2003-01, Vol.26 (2-3), p.119-134

2003

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Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

Archives of disease in childhood, 2001-10, Vol.85 (4), p.339-340

2001

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

Journal of medical genetics, 2000-09, Vol.37 (9), p.704-707

2000

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Lysosomal membrane proteins

European journal of paediatric neurology, 2001, Vol.5, p.11-19

Winchester, Bryan G.

2001

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

Journal of medical genetics, 1998-11, Vol.35 (11), p.910-914

1998

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Mutation analysis in patients with the typical form of Anderson — Fabry disease

Human molecular genetics, 1993-07, Vol.2 (7), p.1051-1053

1993

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Sequence variations in the first exon of alpha-galactosidase A

Journal of medical genetics, 1993-08, Vol.30 (8), p.658-663

1993

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Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

Journal of inherited metabolic disease, 1992-01, Vol.15 (6), p.857-861

1992

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Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

Prenatal diagnosis, 2000-04, Vol.20 (4), p.337-339

2000

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Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders

FEBS letters, 1998-12, Vol.441 (3), p.369-372

1998

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The structural basis of the inhibition of human glycosidases by castanospermine analogues

Biochemical journal, 1990-07, Vol.269 (1), p.227-231

1990

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Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology

Clinical chemistry (Baltimore, Md.), 2001-11, Vol.47 (11), p.2012-2022

2001

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The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis

The Journal of biological chemistry, 1991-09, Vol.266 (25), p.16556-16563

1991

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Substrate specificity of the bovine and feline neutral α-mannosidases

Biochemical journal, 1992-08, Vol.286 (1), p.55-63

1992

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Lysosomal metabolism of glycoconjugates

Sub-cellular biochemistry, 1996, Vol.27, p.191

Winchester, B G

1996

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Prenatal Diagnosis of Lysosomal Storage Diseases

Brain pathology (Zurich, Switzerland), 1998-01, Vol.8 (1), p.133-149

1998

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Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities

European journal of paediatric neurology, 2001, Vol.5, p.193-196

2001

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Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases

The journal of gene medicine, 2001-09, Vol.3 (5), p.488-497

2001

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Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

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

Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

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

Lysosomal membrane proteins

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

Mutation analysis in patients with the typical form of Anderson — Fabry disease

Sequence variations in the first exon of alpha-galactosidase A

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders

The structural basis of the inhibition of human glycosidases by castanospermine analogues

Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology

The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis

Substrate specificity of the bovine and feline neutral α-mannosidases

Lysosomal metabolism of glycoconjugates

Prenatal Diagnosis of Lysosomal Storage Diseases

Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities

Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases

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