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1

Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

De-Ann M. Pillers, Richard G. Weleber, Berkley R. Powell, Cheryl E. Hanna, R. Ellen Magenis, Neil R. M. Buist

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 582 KB

english, 1990

2

Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency

Ajey Jain, Neil R.M. Buist, Nancy G. Kennaway, Berkley R. Powell, Peter A.M. Auld, Johannes Mårtensson

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 729 KB

english, 1994

3

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

Dr Stephen G. Kaler, Neil R. M. Buist, Courtney S. Holmes, David S. Goldstein, Richard C. Miller, William A. Gahl

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 911 KB

english, 1995

4

Use of toluidine blue for sequential staining of urinary amino acid chromatograms

Helen T. Curtis, Neil R.M. Buist

Journal:

Journal of Chromatography A

Year:

1971

Language:

english

File:

PDF, 372 KB

english, 1971

5

The insulin/glucose ratio in children with islet cell tumors of the pancreas

Albert Castro, Neil R.M. Buist

Journal:

Clinical Biochemistry

Year:

1974

Language:

english

File:

PDF, 348 KB

english, 1974

6

The separation of peptides from amino acids in urine by ligand exchange chromatography

Neil R. M. Buist, Donough O'Brien

Journal:

Journal of Chromatography A

Year:

1967

Language:

english

File:

PDF, 497 KB

english, 1967

7

COPD uncovered: an international survey on the impact of chronic obstructive pulmonary disease [COPD] on a working age population

Monica J Fletcher, Jane Upton, Judith Taylor-Fishwick, Sonia A Buist, Christine Jenkins, John Hutton, Neil Barnes, Thys Van Der Molen, John W Walsh, Paul Jones, Samantha Walker

Journal:

BMC Public Health

Year:

2011

Language:

english

File:

PDF, 444 KB

english, 2011

8

Gyrate atrophy of the choroid and retina

Richard G. Weleber, Nancy G. Kennaway, Neil R. M. Buist

Journal:

International Ophthalmology

Year:

1981

Language:

english

File:

PDF, 1.93 MB

english, 1981

9

Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II

Ernst Natt, Eva-Maria Westphal, Su Ellen Toth-Fejel, R. Ellen Magenis, Neil R. M. Buist, Ruth Rettenmeier, Gerd Scherer

Journal:

Year:

1987

Language:

english

File:

PDF, 1.19 MB

english, 1987

10

Serum hexosaminidase activity in I-cell disease carriers

Jaclyn Vidgoff, Neil R. M. Buist

Journal:

Year:

1977

Language:

english

File:

PDF, 565 KB

english, 1977

11

Pacific northwest regional newborn screening: A paradigm of prevention

Judith M. Tuerck, Neil R. M. Buist

Journal:

Journal of Medical Systems

Year:

1988

Language:

english

File:

PDF, 433 KB

english, 1988

12

Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

R. Vervoort, Neil R. M. Buist, Wim J. Kleijer, Ron Wevers, Jean-Pierre Fryns, Inge Liebaers, W. Lissens

Journal:

Year:

1997

Language:

english

File:

PDF, 236 KB

english, 1997

13

Quantification of Intraoral Pressures During Nutritive Sucking: Methods with Normal Infants

William Christopher Lang, Neil R. M. Buist, Annmarie Geary, Scott Buckley, Elizabeth Adams, Albyn C. Jones, Stephen Gorsek, Susan C. Winter, Hanh Tran, Brian R. Rogers

Journal:

Year:

2011

Language:

english

File:

PDF, 702 KB

english, 2011

14

Scene from the USA: The illogic of mandating screening without also providing for treatment

Neil R. M. Buist, Kathleen Huntington

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

15

The separation of peptides from amino acids by ligand-exchange chromatography

John F. Bellinger, Neil R.M. Buist

Journal:

Journal of Chromatography A

Year:

1973

Language:

english

File:

PDF, 764 KB

english, 1973

16

10.1038/83707

Wildin, Robert S., Ramsdell, Fred, Peake, Jane, Faravelli, Francesca, Casanova, Jean-Laurent, Buist, Neil, Levy-Lahad, Ephrat, Mazzella, Massimo, Goulet, Olivier, Perroni, Lucia, Dagna Bricarelli, Fra

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

17

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

Keightley, J. Andrew, Hoffbuhr, Kristen C., Burton, Miriam D., Salas, Virginia M., Johnston, Wendy S.W., Penn, Andrew M.W., Buist, Neil R.M., Kennaway, Nancy G.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 999 KB

1996

18

Control of Metal Ion Size-Based Selectivity through Chelate Ring Geometry. Metal Ion Complexing Properties of 2,2′-Biimidazole

Buist, David, Williams, Neil J., Reibenspies, Joseph H., Hancock, Robert D.

Journal:

Inorganic Chemistry

Year:

2010

Language:

english

File:

PDF, 1.67 MB

english, 2010

19

The Code Red Project: Engaging Communities in Health System Change in Hamilton, Canada

Patrick F. DeLuca, Steve Buist, Neil Johnston

Journal:

Social Indicators Research

Year:

2012

Language:

english

File:

PDF, 564 KB

english, 2012

20

Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding

William B. Hanley, Lawrence D. Platt, Ronald P. Bachman, Neil Buist, Michael T. Geraghty, Janet Isaacs, Margaret E. O’Flynn, William J. Rhead, Günter Seidlitz, Bluma Tishler

Journal:

American Journal of Obstetrics and Gynecology

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

21

THE EEGs OF INFANTS WITH CITRULLINEMIA

Rudolf C. Engel, Neil R. M. Buist

Journal:

Developmental Medicine & Child Neurology

Year:

1985

Language:

english

File:

PDF, 499 KB

english, 1985

22

In Memoriam: Horst Bickel (1918–2000)

Friedrich Trefz, Neil Buist

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 166 KB

english, 2001

23

A simple gas pressure regulator to control elution rates during liquid column chromatography at pressures below 2 ib/inch2

Neil R.M. Buist, James V. Higgins

Journal:

Clinica Chimica Acta

Year:

1970

Language:

english

File:

PDF, 164 KB

english, 1970

24

The origin of urinary p-hydroxyphenylpyruvate in a patient with hepatic cytosol tyrosine aminotransferase deficiency

Nancy G. Kennaway, Neil R.M. Buist, Jack H. Fellman

Journal:

Clinica Chimica Acta

Year:

1972

Language:

english

File:

PDF, 370 KB

english, 1972

25

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valérie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier Demaegd, Neil Buist, David Cheil

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.56 MB

english, 2012

26

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Roberto Anitori, Kara Manning, Franklin Quan, Richard G. Weleber, Neil R.M. Buist, Eric A. Shoubridge, Nancy G. Kennaway

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.40 MB

english, 2005

27

Dominantly inherited megalencephaly, muscle weakness, and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome

Berkley R. Powell, Sarojini S. Budden, Neil R.M. Buist

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 2.67 MB

english, 1993

28

Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine

Susan C Winter, Neil R.M Buist

Journal:

American Heart Journal

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

29

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

Gregory M. Enns, Robert D. Steiner, Neil Buist, Charles Cowan, Kathleen A. Leppig, Marjorie F. McCracken, Vibeke Westphal, Hudson H. Freeze, John F. O'Brien, Jaak Jaeken, Gert Matthijs, Sarina Behera,

Journal:

The Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

30

Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping

Ellis J. Neufeld, Hanna Mandel, Tal Raz, Raymonde Szargel, Chandri N. Yandava, Amy Stagg, Sabine Fauré, Timothy Barrett, Neil Buist, Nadine Cohen

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 1.20 MB

english, 1997

31

Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

J. Andrew Keightley, Roberto Anitori, Miriam D. Burton, Franklin Quan, Neil R.M. Buist, Nancy G. Kennaway

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 673 KB

english, 2000

32

Blue diapers caused by pyocyanin produced by P. aeruginosa

Neil R.M. Buist, John F. Bellinger, Donald A. Ramberg, Kenneth Pfaff

Journal:

The Journal of Pediatrics

Year:

1972

Language:

english

File:

PDF, 66 KB

english, 1972

33

A guide to screening newborn infants for inborn errors of metabolism

Richard E. Behrman, Neil R.M. Buist, Banoo M. Jhaveri

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 894 KB

english, 1973

34

Reply

Neil R.M. Buist, Banoo M. Jhaveri

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 76 KB

english, 1973

35

Citrullinemia: Investigation and treatment over afour-year period

Neil R.M. Buist, Nancy G. Kennaway, Cecilia A. Hepburn, J. Jeffrey Strandholm, Donald A. Ramberg

Journal:

The Journal of Pediatrics

Year:

1974

Language:

english

File:

PDF, 546 KB

english, 1974

36

Further studies on a patient with iminodipeptiduria: A probable case of prolidase deficiency

Neil R.M. Buist, J.Jeffrey Strandholm, John F. Bellinger, Nancy G. Kennaway

Journal:

Year:

1972

Language:

english

File:

PDF, 806 KB

english, 1972

37

Sterol balance in abetalipoproteinemia: Studies in a patient with homozygous familial hypobetalipoproteinemia

D.Roger Illingworth, William E. Connor, Neil R.M. Buist, Banoo M. Jhaveri, Don S. Lin, Martha P. McMurry

Journal:

Year:

1979

Language:

english

File:

PDF, 946 KB

english, 1979

38

Analysis of dentine pathogenesis in vitamin D—resistant rickets

William E. Tracy, John C. Steen, John E. Steiner, Neil R.M. Buist

Journal:

Oral Surgery, Oral Medicine, Oral Pathology

Year:

1971

Language:

english

File:

PDF, 4.18 MB

english, 1971

39

Neonatal screening for alpha1-antitrypsin deficiency

Mary Lynn O'Brien, Neil R.M. Buist, William H. Murphey

Journal:

The Journal of Pediatrics

Year:

1978

Language:

english

File:

PDF, 388 KB

english, 1978

40

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy

Berkley R. Powell, Neil R.M. Buist, Peter Stenzel

Journal:

The Journal of Pediatrics

Year:

1982

Language:

english

File:

PDF, 5.15 MB

english, 1982

41

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children

Sarojini S. Budden, Nancy G. Kennaway, Neil R.M. Buist, A. Poulos, Richard G. Weleber

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 2.97 MB

english, 1986

42

Interference by third-generation cephalosporins with neonatal screening for galactosemia

Jack P. Schunk, John S. Bradley, Neil R.M. Buist, Michael R. Skeels

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 92 KB

english, 1988

43

Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis

Ckintana Sirinavin, Neil R. M. Buist, Premrudee Mokkhaves

Journal:

Clinical Genetics

Year:

1982

Language:

english

File:

PDF, 418 KB

english, 1982

44

Excretion of α-N-acetylcitrulline in citrullinaemia

Strandholm, J.Jeffrey, Buist, Neil R.M., Kennaway, Nancy G., Curtis, Helen T.

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

1971

Language:

english

File:

PDF, 178 KB

english, 1971

45

Homoargininosuccinic acid synthesis by an enzyme from pig kindney

Strandholm, J.Jeffrey, Buist, Neil R.M., Kennaway, Nancy G.

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

1971

Language:

english

File:

PDF, 184 KB

english, 1971

46

Metabolic screening of the newborn infant

Buist, Neil R.M.

Journal:

Clinics in Endocrinology and Metabolism

Year:

1976

Language:

english

File:

PDF, 1.52 MB

english, 1976

47

[Part 1: Biological Sciences] || Deficiency in Ubiquinone Cytochrome c Reductase in a Patient with Mitochondrial Myopathy and Lactic Acidosis

Victor M. Darley-Usmar, Nancy G. Kennaway, Neil R. M. Buist and Roderick A. Capaldi

Journal:

Proceedings of the National Academy of Sciences

Year:

1983

Language:

english

File:

PDF, 1.18 MB

english, 1983

48

Diane B. Paul and Jeffrey P Brosco: The PKU Paradox. A Short History of a Genetic Disease

Buist, Neil R. M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 51 KB

english, 2015

49

Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain

Kennaway, Nancy G, Buist, Neil R M, Darleyhusmar, Victor M, Papadimitriou, Alexander, Dimauro, Salvatore, Kelley, Richard I, Capaldi, Roderick A, Blank, Nathan K, D'Agostino, Anthony

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 6.19 MB

english, 1984

50

Flocculation and Precipitation of Insulin

BUIST, NEIL R. M.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1988

Language:

english

File:

PDF, 161 KB

english, 1988