NeilR. M.BuistMD

PubMed

• Remembering the Legacy of Judi Tuerck.
  Amy Morris, Cheryl Hermerath, Jelili Ojodu, Neil Buist> ;International Journal of Neonatal Screening. 2022 Dec 22
• 1 citations
  Rationale and design of the Baylor Infant Twin Study—A study assessing obesity‐related risk factors from infancy
  Shabnam R Momin, Mackenzie K Senn, Scott Buckley, Neil R. M. Buist, Manisha Gandhi, Amy B. Hair, Sheryl O. Hughes, Kelly R. Hodges, William C Lange, Maria A. Papaioann...> ;Obesity Science & Practice. 2021 Feb 1
• 5 citations
  Quantification of nutritive sucking among preterm and full-term infants.
  Ashley Scherman, Jack Wiedrick, William Christopher Lang, Rebecca E. Rdesinski, Jodi Lapidus, Cindy T. McEvoy, Aimee Abu-Shamsieh, Scott Buckley, Brian T. Rogers, Neil...> ;Research and Reports in Neonatology. 2018 Oct 8
• 11 citations
  Historical Perspective on Clinical Trials of Carnitine in Children and Adults.
  Neil R. M. Buist> ;Annals of Nutrition & Metabolism. 2016 Jan 1
• 145 citations
  TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
  François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valerie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier...> ;American Journal of Human Genetics. 2012 Jul 13
• 15 citations
  Quantification of intraoral pressures during nutritive sucking: methods with normal infants.
  William Christopher Lang, Neil R. M. Buist, Annmarie Geary, Scott Buckley, Elizabeth L. Adams, Albyn Jones, Stephen Gorsek, Susan Winter, Hanh Tran, Brian R. Rogers> ;Dysphagia. 2011 Sep 1
• 151 citations
  IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria
  Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen, K. Michael Gibson, Warsha A. Kanhai, Marjo S. van der Knaap, Jeanne Amiel, Neil R. M. Buist, Anibh M. Das,...> ;Science. 2010 Oct 15
• Discussants made misleading statements about seizures.
  Neil R M Buist> ;Pediatric Annals. 2009 Jul 1
• 8 citations
  The EEGs of infants with citrullinemia.
  Rudolf C.H. Engel, Neil R. M. Buist> ;Developmental Medicine and Child Neurology. 2008 Nov 12
• 11 citations
  Digital clubbing, hyperhidrosis, acro‐osteolysis and osteoporosis. A case resembling pachydermoperiostosis
  Ckintana Sirinavin, Neil R. M. Buist, Premrudee Mokkhaves> ;Clinical Genetics. 2008 Apr 23
• 3 citations
  Scene from the USA: the illogic of mandating screening without also providing for treatment.
  Neil R. M. Buist, Kathleen Huntington> ;Journal of Inherited Metabolic Disease. 2007 Aug 31
• 58 citations
  S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
  Neil R. M. Buist, B. Glenn, Oliver Vugrek, Conrad Wagner, Sally P. Stabler, Robert H. Allen, Igor P. Pogribny, Andreas Schulze, Steven H. Zeisel, Ivo Barić, S. H. Mudd> ;Journal of Inherited Metabolic Disease. 2006 May 30
• 35 citations
  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> ;Molecular Genetics and Metabolism. 2005 Feb 1
• 9 citations
  Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).
  W. G. Ng, Yan-Kang Xu, L J Wong, Francine R. Kaufman, Neil R. M. Buist, G. N. Donnell> ;Journal of Inherited Metabolic Disease. 2003 Jan 1
• 5 citations
  Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group.
  Neil R. M. Buist, Olivier Dulac, Teodoro Bottiglieri, Jutta Gärtner, Piero Rinaldo, Nicole I. Wolf> ;Journal of Child Neurology. 2002 Dec 1
• 27 citations
  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 R. M. Buist, Charles Cowan, Kathleen A. Leppig, Marjorie F. McCracken, Vibeke Westphal, Hudson H. Freeze, John F. O'Brien, Jac...> ;The Journal of Pediatrics. 2002 Nov 1
• Experience of working in an Afghan camp.
  Neil R. M. Buist> ;BMJ. 2002 Oct 19
• 1 citations
  Height and cataract.
  Neil R. M. Buist> ;The American Journal of Clinical Nutrition. 2002 Jan 1
• 34 citations
  Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilo...
  Chitra Prasad, J.P. Johnson, Jean-Paul Bonnefont, Louise A. Dilling, A.M. Innes, James C. Haworth, L. Beischel, Laure Thuillier, Carina Prip-Buus, RK Singal, J.R.G. Th...> ;Molecular Genetics and Metabolism. 2001 May 1
• 1409 citations
  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
  Robert S. Wildin, Fred Ramsdell, Jane Peake, Francesca Faravelli, Jean-Laurent Casanova, Neil R. M. Buist, Ephrat Levy-Lahad, Massimo Mazzella, Olivier Goulet, L. Perr...> ;Nature Genetics. 2001 Jan 1
• 91 citations
  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> ;American Journal of Human Genetics. 2000 Dec 1
• 25 citations
  Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.
  Susan C Winter, Neil R. M. Buist> ;American Heart Journal. 2000 Feb 1
• 58 citations
  D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
  M.S. van der Knaap, C.A.J.M. Jakobs, Georg F. Hoffmann, William L. Nyhan, Willy O. Renier, Jan A.M. Smeitink, Coriene E. Catsman-Berrevoets, O. Hjalmarson, Hilary Vall...> ;Annals of Neurology. 1999 Jan 1
• 72 citations
  Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
  Marju Orho, Nils U. Bosshard, Neil R. M. Buist, R. Gitzelmann, Albert Aynsley-Green, Peter Blümel, Mary C. Gannon, Frank Q. Nuttall, Leif Groop> ;The Journal of Clinical Investigation. 1998 Aug 1
• 71 citations
  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 R. M. Buist, Nadine Cohen> ;American Journal of Human Genetics. 1997 Dec 1
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