Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Neil R. M. Buist"'
Autor:
Mimi Phan, Sheryl O. Hughes, Robert A. Waterland, Amy B. Hair, Shabnam R Momin, Maria A. Papaioannou, William C Lange, Mackenzie K Senn, Scott Buckley, Alexis C. Wood, Kelly R. Hodges, Manisha Gandhi, Neil R. M. Buist
Publikováno v:
Obesity Science & Practice
Obesity Science & Practice, Vol 7, Iss 1, Pp 63-70 (2021)
Obesity Science & Practice, Vol 7, Iss 1, Pp 63-70 (2021)
Background Early childhood (0–3 years) is a critical period for obesity prevention, when tendencies in eating behaviors and physical activity are established. Yet, little is understood about how the environment shapes children's genetic predisposit
Autor:
Neil R. M. Buist, Brian T. Rogers, Cindy T. McEvoy, Rebecca E. Rdesinski, William Christopher Lang, Scott Buckley, Jodi Lapidus, Ashley Scherman, Aimee Abu-Shamsieh, Jack Wiedrick
Publikováno v:
Res Rep Neonatol
Ashley Scherman,1,2 Jack Wiedrick,3 William C Lang,4 Rebecca E Rdesinski,5 Jodi Lapidus,3 Cynthia McEvoy,1 Aimee Abu-Shamsieh,6 Scott Buckley,7 Brian Rogers,1 Neil Buist1 1Department of Pediatrics, Oregon Health & Science University, Portland, OR, US
Autor:
Neil R. M. Buist
Publikováno v:
Annals of Nutrition and Metabolism. 68:1-4
The metabolic roles of carnitine have been greatly clarified over the past 50 years, and it is now well established that carnitine is a key player in mitochondrial generation of energy and metabolism of acetyl coenzyme A. A therapeutic role for carni
Autor:
Pierre Morsomme, Mustapha Amyere, Valerie Race, Dominique Legrand, W. Annaert, Hudson H. Freeze, Jaak Jaeken, Neil R. M. Buist, Didier Demaegd, Riet Bammens, Emile Van Schaftingen, Els Schollen, Renate Zeevaert, Claire Rosnoblet, David Cheillan, Gert Matthijs, François Foulquier, Miikka Vikkula, Willy Morelle, Nathalie Guffon
Publikováno v:
The American Journal of Human Genetics. 91(1):15-26
Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking, compartmental pH, and ion homeostasis. Through a combination of a
Autor:
Susan Winter, Elizabeth L. Adams, Hanh Tran, Stephen Gorsek, Scott Buckley, William Christopher Lang, Annmarie Geary, Brian R. Rogers, Albyn Jones, Neil R. M. Buist
Publikováno v:
Dysphagia. 26:277-286
We report quantitative measurements of ten parameters of nutritive sucking behavior in 91 normal full-term infants obtained using a novel device (an Orometer) and a data collection/analytical system (Suck Editor). The sucking parameters assessed incl
Autor:
Kathleen Huntington, Neil R. M. Buist
Publikováno v:
Topics in Clinical Nutrition. 24:289-306
Autor:
Neil R. M. Buist, Rudolf C.H. Engel
Publikováno v:
Developmental Medicine & Child Neurology. 27:199-206
Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They
Publikováno v:
Clinical Genetics. 22:83-89
We report a Cambodian girl with digital clubbing, profuse hyperhidrosis, and joint and leg pain and swelling. She also had extensive acro-osteolysis of distal phalanges as well as generalized osteoporosis. There was no other affected person in the fa
Autor:
Neil R. M. Buist, Igor P. Pogribny, Andreas Schulze, S. H. Mudd, Ivo Barić, Sally P. Stabler, Steven H. Zeisel, Robert H. Allen, Conrad Wagner, Oliver Vugrek, B. Glenn
Publikováno v:
Journal of Inherited Metabolic Disease. 29:538-545
This paper reports the third proven human case of deficient S-adenosylhomocysteine (AdoHcy) hydrolase activity. The patient is similar to the only two previously reported cases with this disorder in having severe myopathy, developmental delay, elevat
Autor:
Neil R. M. Buist, Nancy G. Kennaway, Roberto Anitori, Eric A. Shoubridge, Franklin Quan, Kara Manning, Richard G. Weleber
Publikováno v:
Molecular Genetics and Metabolism. 84:176-188
We studied three patients, each harboring a novel mutation at a highly conserved position in a different mitochondrial tRNA gene. The mutation in patient 1 (T5543C) was associated with isolated mitochondrial myopathy, and occurred in the anticodon lo