Guy Besley: search on Z-Library

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1

Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants: Phosphodiesterase activities measured with natural and artificial substrates

Guy T.N. Besley, Stephen E. Moss

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1983

Language:

english

File:

PDF, 952 KB

english, 1983

2

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

Ida V. D. Schwartz, Luciane C. Lima, Karen Tylee, Ruy P. Oliveira Sobrinho, Denise Y. J. Norato, Andréa R. Duarte, Guy Besley, Maira G. Burin, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 71 KB

english, 2006

3

Is tissue β-hexosaminidase I 2 the abnormally expressed form in acute lymphoblastic leukaemia?

MOSS, STEPHEN E., BESLEY, GUY T. N.

Journal:

Biochemical Society Transactions

Year:

1987

Language:

english

File:

PDF, 285 KB

english, 1987

4

Evidence from lectin-binding studies for abnormal glycosylation ofβ-hexosaminidase in the leukaemic cell-line CCRF/CEM

Stephen E Moss, Guy T N Besley

Journal:

Glycoconjugate Journal

Year:

1985

Language:

english

File:

PDF, 675 KB

english, 1985

5

The nature of lysosomal enzyme glycosylation in all: Relevance to abnormal β-hexosaminidase expression

Stephen E. Moss, Guy T.N. Besley

Journal:

Leukemia Research

Year:

1988

Language:

english

File:

PDF, 1.28 MB

english, 1988

6

Studies on Hexosaminidase C in Cultured Skin Fibroblasts from Patients with Sandhoff's Disease

BROADHEAD, DAVID M., BESLEY, GUY T. N.

Journal:

Biochemical Society Transactions

Year:

1975

Language:

english

File:

PDF, 250 KB

english, 1975

7

The relationship between abnormal β-hexosaniinidase expression in leukaemia and changes in glycosylation

MOSS, STEPHEN E., BESLEY, GUY T. N.

Journal:

Biochemical Society Transactions

Year:

1987

Language:

english

File:

PDF, 269 KB

english, 1987

8

Correspondence

R Schauer, Guy Besley, M A K Markwell

Journal:

Glycoconjugate Journal

Year:

1985

Language:

english

File:

PDF, 88 KB

english, 1985

9

Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Anne-Marie Lamhonwah, Simon E. Olpin, Rodney J. Pollitt, Christine Vianey-Saban, Priscille Divry, Nathalie Guffon, Guy T. N. Besley, Russell Onizuka, Linda J. De Meirleir, Ljerka Cvitanovic-Sojat, Ivo

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 321 KB

english, 2002

10

Recognition of abnormal lysosomal enzyme patterns in childhood leukaemia by isoelectric focusing, with special reference to some properties of abnormally expressed components

David M. Broadhead, Guy T.N. Besley, Stephen E. Moss, A.Douglas Bain, Osborn B. Eden, Clive P.Q. Sainsbury

Journal:

Leukemia Research

Year:

1981

Language:

english

File:

PDF, 663 KB

english, 1981

11

Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts

Guy T.N. Besley

Journal:

Year:

1977

Language:

english

File:

PDF, 315 KB

english, 1977

12

Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease

Guy T.N. Besley, Shimon Gatt

Journal:

Clinica Chimica Acta

Year:

1981

Language:

english

File:

PDF, 598 KB

english, 1981

13

Amylo-1,6-glucosidase activity in cultured cells: A deficiency in type III glycogenosis with prenatal studies

Guy T. N. Besley, Patricia T. W. Cohen, Michael J. W. Faed, John Wolstenholme

Journal:

Prenatal Diagnosis

Year:

1983

Language:

english

File:

PDF, 449 KB

english, 1983

14

Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT): Cloning of the Human SCOT Gene, Tertiary Structural Modeling of the Human SCOT Monomer, and Characterization of Three Pathogenic Mutations

Toshiyuki Fukao, Grant A. Mitchell, Xiang-Qian Song, Haruki Nakamura, Sacha Kassovska-Bratinova, Kenji E. Orii, James E. Wraith, Guy Besley, Ronald J.A. Wanders, Klary E. Niezen-Koning, Gerard T. Berr

Journal:

Year:

2000

Language:

english

File:

PDF, 301 KB

english, 2000

15

46. The natural history of Niemann–Pick disease type C

Elizabeth Jacklin, Jackie Imrie, Suprana Dasgupta, Guy Besley, Harris Chris, Leslie Heptinstall, Stephen Knight, Marie Vanier, Anthony Fensom, Chandra Ward, Cath Whitehouse, Wraith Ed

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

16

Studies on pyrophosphate diesterase activity in cultured human fibroblasts: A deficiency in Niemann-Pick disease

Guy T.N. Besley, Stephen E. Moss

Journal:

Clinica Chimica Acta

Year:

1981

Language:

english

File:

PDF, 679 KB

english, 1981

17

Genetic Biochemical Disorder. By Philip F. Benson and Anthony H. Fensom. Oxford: Oxford University Press. 1985. 692 pages. £55. ISBN 0 19 261193 3.

Besley, Guy T. N.

Journal:

Genetics Research

Year:

1986

Language:

english

File:

PDF, 225 KB

english, 1986

18

Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population

Diana Curtis, Alexandra I. F. Blakemore, Paul C. Engel, Donald Macgregor, Guy Besley, Steen Kolvraa, Niels Gregersen

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 224 KB

english, 1991

19

Effect of Triton X-100 on the isoelectric focusing profile of fibroblast sphingomyelinase

Guy T.N. Besley

Journal:

Year:

1976

Language:

english

File:

PDF, 275 KB

english, 1976

20

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Jansen, Gerbert A., Oftnan, Rob, Ferdinandusse, Sacha, Ijlst, Lodewijk, Muijsers, Anton O., Skjeldal, Ola H., Stokke, Oddvar, Jakobs, Cornells, Besley, Guy T.N., Wraith, J. Ed

Journal:

Nature Genetics

Year:

1997

File:

PDF, 485 KB

1997

21

Preface

Brian Fowler, Guy Besley

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

22

Acknowledgements

Frank Roels, Sylvia De Bie, Ruud B. H. Schutgens, Guy T. N. Besley

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 84 KB

english, 1995

23

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue

Sargent, Carole A., Affara, NabeelA., Bentley, Elizabeth, Pelmear, Adele, Bailey, David M.D., Davey, Phillip, Dow, David, Leversha, Margaret, Aplin, Helen, Besley, Guy T.N., Ferguson-Smith, Malcolm A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.94 MB

english, 1993

24

Lysosomal Storage Diseases. Biochemical and Clinical Aspects. By Richard W. E. Watts and Dorothy A. Gibbs. London: Taylor & Francis, 1968, 284 pages, £35, ISBN 0 85066 326 1.

Besley, Guy T. N.

Journal:

Genetics Research

Year:

1986

Language:

english

File:

PDF, 236 KB

english, 1986

25

Isoelectric Focusing of Galactosylceramide β-Galactosidase in Cultured Skin Fibroblasts of Patients with Krabbe's Globoid-Cell Leucodystrophy

BESLEY, GUY T. N.

Journal:

Biochemical Society Transactions

Year:

1975

Language:

english

File:

PDF, 260 KB

english, 1975

26

Preface

Viktor Kozich, Guy Besley

Journal:

Journal of Inherited Metabolic Disease

Year:

2002

Language:

english

File:

PDF, 29 KB

english, 2002

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