Derek Applegarth : rechercher sur Z-Library

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

Année:

1977

Langue:

english

Fichier:

PDF, 146 KB

english, 1977

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

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 65 KB

english, 2000

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:

Human Mutation

Année:

1999

Langue:

english

Fichier:

PDF, 21 KB

english, 1999

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:

Human Mutation

Année:

2001

Langue:

english

Fichier:

PDF, 579 KB

english, 2001

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:

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

Année:

1988

Langue:

english

Fichier:

PDF, 399 KB

english, 1988

Juvenile galactosialidosis in a white male: A new variant

Journal:

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

Année:

1988

Langue:

english

Fichier:

PDF, 981 KB

english, 1988

Oral zinc therapy in the treatment of α-mannosidosis

Journal:

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

Année:

1993

Langue:

english

Fichier:

PDF, 510 KB

english, 1993

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

Journal:

Derek A. Applegarth, Jennifer R. Toone

Année:

1994

Langue:

english

Fichier:

PDF, 608 KB

english, 1994

Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 65 KB

english, 2006

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

Journal:

Human Mutation

Année:

2002

Langue:

english

Fichier:

PDF, 288 KB

english, 2002

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:

Hilary Vallance, Applegarth Derek

Année:

1990

Langue:

english

Fichier:

PDF, 435 KB

english, 1990

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

Journal:

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

Année:

1994

Langue:

english

Fichier:

PDF, 352 KB

english, 1994

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

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 146 KB

english, 2008

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:

Année:

2003

Langue:

english

Fichier:

PDF, 151 KB

english, 2003

Comparison of glucose determinations obtained from whole blood and plasma

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

Journal:

Derek A. Applegarth, Patricia M. Ross

Année:

1971

Langue:

english

Fichier:

PDF, 207 KB

english, 1971

Pollution, mercury and the clinical chemist

Journal:

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

Année:

1976

Langue:

english

Fichier:

PDF, 73 KB

english, 1976

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

Journal:

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

Année:

1977

Langue:

english

Fichier:

PDF, 383 KB

english, 1977

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

Journal:

Année:

1983

Langue:

english

Fichier:

PDF, 217 KB

english, 1983

Biochemistry, genetics and children

Derek Applegarth

Journal:

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

Année:

1985

Langue:

english

Fichier:

PDF, 988 KB

english, 1985

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

Journal:

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

Année:

1997

Langue:

english

Fichier:

PDF, 470 KB

english, 1997

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

Journal:

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

Année:

1998

Langue:

english

Fichier:

PDF, 260 KB

english, 1998

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

Journal:

Prenatal Diagnosis

Année:

1986

Langue:

english

Fichier:

PDF, 403 KB

english, 1986

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

Année:

2002

Langue:

english

Fichier:

PDF, 60 KB

english, 2002

Are patients with homocystinuria being missed?

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

Journal:

European Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 101 KB

english, 1995

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

Année:

1997

Langue:

english

Fichier:

PDF, 1.29 MB

english, 1997

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

Angela V. Savage, Derek A. Applegarth

Journal:

Carbohydrate Research

Année:

1986

Langue:

english

Fichier:

PDF, 242 KB

english, 1986

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

Kent C. Dooley, Derek A. Applegarth

Journal:

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

Année:

1979

Langue:

english

Fichier:

PDF, 303 KB

english, 1979

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

Journal:

Experimental and Molecular Pathology

Année:

1987

Langue:

english

Fichier:

PDF, 2.16 MB

english, 1987

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:

Genomics

Année:

1994

Fichier:

PDF, 394 KB

1994

Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia

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

Journal:

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

Année:

2000

Langue:

english

Fichier:

PDF, 90 KB

english, 2000

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)

Journal:

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

Année:

2001

Langue:

english

Fichier:

PDF, 61 KB

english, 2001

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

Journal:

Derek A. Applegarth, Jennifer R. Toone

Année:

2001

Langue:

english

Fichier:

PDF, 178 KB

english, 2001

Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis

Journal:

Derek A. Applegarth, Patricia M. Ross

Année:

2001

Langue:

english

Fichier:

PDF, 57 KB

english, 2001

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

Journal:

Derek A. Applegarth, Stella Poon

Année:

1975

Langue:

english

Fichier:

PDF, 160 KB

english, 1975

Interpretation of elevated blood glycine levels in children

Journal:

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

Année:

1975

Langue:

english

Fichier:

PDF, 744 KB

english, 1975

Plasma arginine esterase activity in cystic fibrosis of the pancreas

Journal:

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

Année:

1977

Langue:

english

Fichier:

PDF, 313 KB

english, 1977

Assessment of protease-binding by α2 macroglobulin in multiple sclerosis

Journal:

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

Année:

1982

Langue:

english

Fichier:

PDF, 433 KB

english, 1982

Protease binding by α2 macroglobulin in cystic fibrosis

Journal:

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

Année:

1982

Langue:

english

Fichier:

PDF, 776 KB

english, 1982

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

Journal:

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

Année:

1982

Langue:

english

Fichier:

PDF, 770 KB

english, 1982

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

Journal:

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

Année:

1986

Langue:

english

Fichier:

PDF, 978 KB

english, 1986

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

Journal:

Jennifer R. Toone, Derek A. Applegarth

Année:

1986

Langue:

english

Fichier:

PDF, 506 KB

english, 1986

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

Journal:

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

Année:

1991

Langue:

english

Fichier:

PDF, 151 KB

english, 1991

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

Journal:

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

Année:

2004

Langue:

english

Fichier:

PDF, 352 KB

english, 2004

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

Journal:

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

Année:

2005

Langue:

english

Fichier:

PDF, 299 KB

english, 2005

Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations

Journal:

The Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 403 KB

english, 1996

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

Année:

1999

Langue:

english

Fichier:

PDF, 103 KB

english, 1999

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:

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

Année:

2002

Langue:

english

Fichier:

PDF, 302 KB

english, 2002

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

Journal:

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

Année:

2003

Langue:

english

Fichier:

PDF, 224 KB

english, 2003

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

Journal: