Derek Applegarth: search on Z-Library

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1

The Neonate, Clinical Biochemistry, Physiology and Pathology - The Neonate, Clinical Biochemistry, Physiology and PathologyThe Neonate, Clinical Biochemistry, Physiology and Pathology, edited by Donald S. Young and Jocelyn M. Hicks (John Wiley & Sons).

Derek A. Applegarth

Journal:

Clinical Biochemistry

Year:

1977

Language:

english

File:

PDF, 146 KB

english, 1977

2

Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses

Derek A. Applegarth, Jennifer R. Toone, Marie O. Rolland, Susan H. Black, Dwight K. C. Yim, Gardner Bemis

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

3

Identification of 6 new mutations in the iduronate sulfatase gene

Hilary D. Vallance, Lynn Bernard, Michael Rashed, Doris Chiu, Grace Le, Jenny Toone, Derek A. Applegarth, Marion Coulter-Mackie

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

4

Identification of the first reported splice site mutation (IVS7-1G→A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia

Jennifer R. Toone, Derek A. Applegarth, Marion B. Coulter-Mackie, Erick R. James

Journal:

Year:

2001

Language:

english

File:

PDF, 579 KB

english, 2001

5

Interstitial 7q deletion [46,XX,del(7)(pter → q21.1::q22 → qter)] and the location of genes for β-glucuronidase and cystic fibrosis

David Chitayat, Dr. Barbara C. McGillivray, Steven Wood, Dagmar K. Kalousek, Sylvie Langlois, Derek A. Applegarth, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 399 KB

english, 1988

6

Juvenile galactosialidosis in a white male: A new variant

David Chitayat, Derek A. Applegarth, Joyce Lewis, James E. Dimmick, Andrew Q. McCormick, Dr. Judith G. Hall, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 981 KB

english, 1988

7

Oral zinc therapy in the treatment of α-mannosidosis

Lawrence T. K. Wong, Hilary Vallance, Angela Savage, A. G. F. Davidson, Derek Applegarth

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 510 KB

english, 1993

8

DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent

Francis Y. M. Choy, Chao Wei, Derek A. Applegarth, Barbara C. McGillivray

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 608 KB

english, 1994

9

Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations

Derek A. Applegarth, Jennifer R. Toone

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 65 KB

english, 2006

10

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Mary Anna Carbone, Derek A. Applegarth, Brian H. Robinson

Journal:

Year:

2002

Language:

english

File:

PDF, 288 KB

english, 2002

11

Biochemical investigation of a child with molybdenum cofactor deficiency

Fiona J. Bamforth, Jean L. Johnson, A. George F. Davidson, Lawrence T.K. Wong, Gillian Lockitch, Derek A. Applegarth

Journal:

Clinical Biochemistry

Year:

1990

Language:

english

File:

PDF, 435 KB

english, 1990

12

An improved method for quantification of very long chain fatty acids in plasma

Hilary Vallance, Applegarth Derek

Journal:

Clinical Biochemistry

Year:

1994

Language:

english

File:

PDF, 352 KB

english, 1994

13

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results

Marion B. Coulter-Mackie, Qun Lian, Derek A. Applegarth, Jennifer Toone, Paula J. Waters, Hilary Vallance

Journal:

Clinical Biochemistry

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

14

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

Nelson L.S. Tang, Joannie Hui, Collin K.K. Yong, Lawrence T.K. Wong, Derek A. Applegarth, Hilary D. Vallance, L.K. Law, Simon L.M. Fung, Tony W.L. Mak, Y.M. Sung, K.L. Cheung, T.F. Fok

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 151 KB

english, 2003

15

Comparison of glucose determinations obtained from whole blood and plasma

Peter Ingram, Sandra Ingram, Shirley Turtle, Sheila Sturrock, Derek Applegarth

Journal:

Clinical Biochemistry

Year:

1971

Language:

english

File:

PDF, 207 KB

english, 1971

16

Pollution, mercury and the clinical chemist

Derek A. Applegarth, Patricia M. Ross

Journal:

Clinical Biochemistry

Year:

1976

Language:

english

File:

PDF, 73 KB

english, 1976

17

Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine

Derek A. Applegarth, Stephen I Goodman, Donald G. Irvine, Egil Jellum

Journal:

Clinical Biochemistry

Year:

1977

Language:

english

File:

PDF, 383 KB

english, 1977

18

The influence of anticonvulsants on fasting plasma ammonia and amino acid levels

Christopher M. Verity, Derek A. Applegarth, Kevin Farrell, Lorne T. Kirby

Journal:

Clinical Biochemistry

Year:

1983

Language:

english

File:

PDF, 217 KB

english, 1983

19

Biochemistry, genetics and children

Derek Applegarth

Journal:

Clinical Biochemistry

Year:

1985

Language:

english

File:

PDF, 988 KB

english, 1985

20

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: A case in point

Marion B. Coulter-Mackie, Derek A. Applegarth, Jennifer Toone, Hilary Vallance

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 470 KB

english, 1997

21

A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion

Marion B Coulter-Mackie, Derek A Applegarth, Jennifer R Toone, Liane Gagnier

Journal:

Clinical Biochemistry

Year:

1998

Language:

english

File:

PDF, 260 KB

english, 1998

22

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Thomas G. Warner, M. Wilson Turner, Jennifer R. Toone, Derek Applegarth

Journal:

Prenatal Diagnosis

Year:

1986

Language:

english

File:

PDF, 403 KB

english, 1986

23

Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy)

Derek A. Applegarth, Marie-Odile Rolland, Jennifer R. Toone, Marion Coulter-Mackie, Robert Saura

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

24

Are patients with homocystinuria being missed?

Derek A. Applegarth, Hilary D. Vallance, David Seccombe

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 101 KB

english, 1995

25

The ultrastructure of skin from a patient with mucopolysaccharidosis IIID

J. Alroy, Margaret Z. Jones, Joseph C. Rutledge, John W. Taylor, Jennifer Toone, Derek Applegarth, John J. Hopwood

Journal:

Acta Neuropathologica

Year:

1997

Language:

english

File:

PDF, 1.29 MB

english, 1997

26

Diagnosis of mucopolysaccharidoses using 1H-n.m.r. spectroscopy of glycosaminoglycans

Angela V. Savage, Derek A. Applegarth

Journal:

Carbohydrate Research

Year:

1986

Language:

english

File:

PDF, 242 KB

english, 1986

27

Hyperprolinemia type II: Evidence of the excretion of 3-hydroxy Δ1-pyrroline 5-carboxylic acid

Kent C. Dooley, Derek A. Applegarth

Journal:

Clinical Biochemistry

Year:

1979

Language:

english

File:

PDF, 303 KB

english, 1979

28

Morphological and histochemical changes in intestinal mucosa in the reserpine-treated rat model of cystic fibrosis

Carol M. Park, Philip E. Reid, David A. Owen, John M. Sanker, Derek A. Applegarth

Journal:

Experimental and Molecular Pathology

Year:

1987

Language:

english

File:

PDF, 2.16 MB

english, 1987

29

Murine α-l-Iduronidase: cDNA Isolation and Expression

Lorne A. Clarke, Jamal Nasir, Hanfang Zhang, Helen McDonald, Derek A. Applegarth, Michael R. Hayden, Jennifer Toone

Journal:

Year:

1994

File:

PDF, 394 KB

1994

30

Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia

Jennifer R. Toone, Derek A. Applegarth, Marion B. Coulter-Mackie, Erick R. James

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 90 KB

english, 2000

31

Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketotic Hyperglycinemia (NKH)

Jennifer R. Toone, Derek A. Applegarth, Marion B. Coulter-Mackie, Erick R. James

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 61 KB

english, 2001

32

Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria

Marion B. Coulter-Mackie, Gillian Rumsby, Derek A. Applegarth, Jennifer R. Toone

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 178 KB

english, 2001

33

Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis

Derek A. Applegarth, Jennifer R. Toone

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 57 KB

english, 2001

34

The unsuitability of creatinine excretion as a basis for assessing the excretion of other metabolites by infants and children

Derek A. Applegarth, Patricia M. Ross

Journal:

Clinica Chimica Acta

Year:

1975

Language:

english

File:

PDF, 160 KB

english, 1975

35

Interpretation of elevated blood glycine levels in children

Derek A. Applegarth, Stella Poon

Journal:

Clinica Chimica Acta

Year:

1975

Language:

english

File:

PDF, 744 KB

english, 1975

36

Plasma arginine esterase activity in cystic fibrosis of the pancreas

Katherine Y.H. Chan, Derek A. Applegarth, A. George, F. Davidson

Journal:

Clinica Chimica Acta

Year:

1977

Language:

english

File:

PDF, 313 KB

english, 1977

37

Assessment of protease-binding by α2 macroglobulin in multiple sclerosis

Michael A. Bridges, Derek A. Applegarth, Joanne Johannson

Journal:

Clinica Chimica Acta

Year:

1982

Language:

english

File:

PDF, 433 KB

english, 1982

38

Protease binding by α2 macroglobulin in cystic fibrosis

Michael A. Bridges, Derek A. Applegarth, Joanne Johannson, Lawrence T.K. Wong, A.George F. Davidson

Journal:

Clinica Chimica Acta

Year:

1982

Language:

english

File:

PDF, 776 KB

english, 1982

39

Isolation of pure, active α2 macroglobulin from small-scale plasma samples

Michael A. Bridges, Derek A. Applegarth, Joanne Johannson, A.George F. Davidson, Lawrence T.K. Wong

Journal:

Clinica Chimica Acta

Year:

1982

Language:

english

File:

PDF, 770 KB

english, 1982

40

Diagnosis and characterization of GM 2 gangliosidosis type II (sandhoff disease) by analysis of the accumulating N-acetyl-glucosaminyl oligosaccharides with high performance liquid chromatography

Thomas G. Warner, Raquel D. De Kremer, Derek Applegarth, Amy K. Mock

Journal:

Clinica Chimica Acta

Year:

1986

Language:

english

File:

PDF, 978 KB

english, 1986

41

Fluorometric determination of nanogram quantities of protein in small samples: Application to calcium-transport adenosine triphosphatase

Michael A. Bridges, Keith M. McErlane, Elizabeth Kwong, Sidney Katz, Derek A. Applegarth

Journal:

Clinica Chimica Acta

Year:

1986

Language:

english

File:

PDF, 506 KB

english, 1986

42

Micromethod for the assay of glutamate: glyoxylate aminotransferase and modifications of a micromethod for the assay of alanine: glyoxylate aminotransferase. Implications for the prenatal diagnosis of Type I hyperoxaluria by fetal liver biopsy

Jennifer R. Toone, Derek A. Applegarth

Journal:

Clinica Chimica Acta

Year:

1991

Language:

english

File:

PDF, 151 KB

english, 1991

43

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1

Marion B Coulter-Mackie, Derek Applegarth, Jennifer R Toone, Howard Henderson

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 352 KB

english, 2004

44

The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1

Marion B. Coulter-Mackie, Qun Lian, Derek Applegarth, Jennifer Toone

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 299 KB

english, 2005

45

Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations

Robert D. Steiner, David A. Sweetser, James R. Rohrbaugh, S.Bruce Dowton, Jennifer R. Toone, Derek A. Applegarth

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 403 KB

english, 1996

46

Steroid-responsive pleuropericarditis and livedo reticularis in an unusual case of adult-onset primary hyperoxaluria

Suneet Singh, Charles Tai, Greg Ganz, Choi Kit Yeung, Alex Magil, Frances Rosenberg, Derek Applegarth, Adeera Levin

Journal:

American Journal of Kidney Diseases

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

47

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

Jennifer R. Toone, Derek A. Applegarth, Shigeo Kure, Marion B. Coulter-Mackie, Payam Sazegar, Kanako Kojima, Akiko Ichinohe

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 302 KB

english, 2002

48

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans

Marion B Coulter-Mackie, Andrew Tung, Howard E Henderson, Jennifer R Toone, Derek A Applegarth

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 224 KB

english, 2003

49

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)

Jennifer R Toone, Derek A Applegarth, Harvey L Levy, Marion B Coulter-Mackie, Gary Lee

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 249 KB

english, 2003

50

Anti-plasmin (α2-macroglobulin) activity of plasma from cystic fibrosis patients

Henry Choy, Derek A. Applegarth, A.George F. Davidson, Lawrence T.K. Wong

Journal:

Biochemical and Biophysical Research Communications

Year:

1978

Language:

english

File:

PDF, 203 KB

english, 1978