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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

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

3

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

4

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

5

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

6

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

7

Medical Food for Treatment of Inborn Errors of Metabolism and State Legislative Mandates

Huntington, Kathleen, Buist, Neil R. M.

Journal:

Topics in Clinical Nutrition

Year:

2009

Language:

english

File:

PDF, 669 KB

english, 2009

8

Nutritional Balance Studies of VLBW Infants Fed Their Mothersʼ Milk Fortified with a Liquid Human Milk Fortifier

Raschko, Paula K., Hiller, Jan L., Benda, Gerda I., Buist, Neil R. M., Wilcox, Kim, Reynolds, John W.

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

1989

File:

PDF, 540 KB

1989

9

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

Atkin, Beth M, Buist, Neil R M, Utter, Merton F, Leiter, Andrew B, Banker, Betty Q

Journal:

Pediatric Research

Year:

1979

Language:

english

File:

PDF, 834 KB

english, 1979

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

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

12

Citrullinemia: Enzymatic Evidence for Genetic Heterogeneity

Kennaway, Nancy G, Harwood, Patricia J, Ramberg, Donald A, Koler, Robert D, Buist, Neil R M

Journal:

Pediatric Research

Year:

1975

Language:

english

File:

PDF, 473 KB

english, 1975

13

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

14

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

15

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

16

Letter to the Editor: Metabolic Studies in Tyrosinemia

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

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 207 KB

english, 1978

17

NEONATAL HYPOTHYROIDISM DETECTED BY THE OREGON REGIONAL SCREENING PROGRAM

Lafranchi, Stephen H, Murphey, William H, Buist, Neil R M, Larsen, P Reed, Foley, Thomas P

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 149 KB

english, 1977

18

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

19

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

20

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

21

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., DARLEY-USMAR, VICTOR M., PAPADIMITRIOU, ALEXANDER, DIMAURO, SALVATORE, KELLEY, RICHARD I., CAPALDI, RODERICK A., BLANK, NATHAN K., DʼAGOSTINO, ANTHONY

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 6.19 MB

english, 1984

22

Rationale and design of the Baylor Infant Twin StudyâA study assessing obesityârelated risk factors from infancy

Momin, Shabnam R., Senn, Mackenzie K., Buckley, Scott, Buist, Neil R.M., Gandhi, Manisha, Hair, Amy B., Hughes, Sheryl O., Hodges, Kelly R., Lange, William C., Papaioannou, Maria A., Phan, Mimi, Water

Journal:

Obesity Science & Practice

Year:

2020

File:

PDF, 262 KB

2020

23

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

24

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

25

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

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

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

28

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

29

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans - ()] C22. BEHAVIORAL AND PSYCHOSOCIAL FACTORS IN ASTHMA, CHRONIC OBSTRUCTIVE PULMONARY DISEASE AND OTHER LUNG DISEASES - Patients Of Working Age With COPD Have Reduced Quality Of Life in Comparison To Available Population Norms; An International Survey

Fletcher, Monica, Taylor-Fishwick, Judith C., Upton, Jane, Barnes, Neil, Buist, A. S., Hutton, John, Jenkins, Christine, Jones, Paul W., Salapatas, Marianella D., VAN DER MOLEN, THYS, Walsh, John W.,

Year:

2010

Language:

english

File:

PDF, 21 KB

english, 2010

30

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

31

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans - ()] C22. BEHAVIORAL AND PSYCHOSOCIAL FACTORS IN ASTHMA, CHRONIC OBSTRUCTIVE PULMONARY DISEASE AND OTHER LUNG DISEASES - COPD Has Significant Social And Economic Impact On A Working-age Population Of COPD Sufferers; An International Survey

Fletcher, Monica, Upton, Jane, Taylor-Fishwick, Judith C., Barnes, Neil, Buist, A. S., Hutton, John, Jenkins, Christine, Jones, Paul W., Salapatas, Marianella D., VAN DER MOLEN, THYS, Walsh, John W.,

Year:

2010

Language:

english

File:

PDF, 24 KB

english, 2010

32

DETECTION OF PYRUVATE CARBOXYLASE DEFICIENCY IN LEUKOCYTES FIBROBLASTS

Atkin, Beth M, Utter, Merton F, Weinberg, Mitchell B, Buist, Neil R M

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 125 KB

english, 1977

33

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

34

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

35

Rapid Column-Chromatographic Measurement of Orotic Acid

Bellinger, John F, Buist, Neil R M

Journal:

Clinical Chemistry

Year:

1971

File:

PDF, 377 KB

1971

36

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

37

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

38

Perspective From Khao-I-Dang Refugee Camp

Neil R. M. Buist

Journal:

The British Medical Journal

Year:

1980

Language:

english

File:

PDF, 647 KB

english, 1980

39

The Practitioner’s Role in Newborn Screening

Buist, Neil R.M., Tuerck, Judith M.

Journal:

Pediatric Clinics of North America

Year:

1992

Language:

english

File:

PDF, 1.30 MB

english, 1992

40

Metabolic Studies in a Patient with Hepatic Cytosol Tyrosine Aminotransferase Deficiency

Kennaway, Nancy G, Buist, Neil R M

Journal:

Pediatric Research

Year:

1971

Language:

english

File:

PDF, 767 KB

english, 1971

41

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

42

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

43

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

44

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

45

Reply

Neil R.M. Buist, Banoo M. Jhaveri

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 76 KB

english, 1973

46

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

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

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

49

Amniocentesis for Antenatal Diagnosis of Genetic Disorders

Prescott, Gerald H., Magenis, R. Ellen, Buist, Neil R. M.

Journal:

Postgraduate Medicine

Year:

1972

Language:

english

File:

PDF, 5.79 MB

english, 1972

50

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

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