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Your search keyword '"Shana E. McCormack"' showing total 3 results
Start Over Author "Shana E. McCormack" Publisher elsevier
3 results on '"Shana E. McCormack"'

1. Contributors

Author

Rashid Alshahoumi, Emanuele Barca, Christopher Beatty, Sirisak Chanprasert, Patrick F. Chinnery, John Christodoulou, Bruce H. Cohen, James E. Davison, Suzanne D. DeBrosse, Adela Della Marina, Beatriz García Díaz, Salvatore DiMauro, Simon Edvardson, Marni J. Falk, Xiaowu Gai, Amy Goldstein, Leon Grant, R.H. Haas, Michio Hirano, Rita Horvath, Pirjo Isohanni, Douglas S. Kerr, Mary Kay Koenig, Tuula Lönnqvist, Mariana Loos, S.E. Marin, Shana E. McCormack, Elizabeth M. McCormick, Robert K. Naviaux, Anders Paetau, Sumit Parikh, Emily Place, Catarina M. Quinzii, Shamima Rahman, Lisa Riley, Ann Saada (Reisch), Russell P. Saneto, Fernando Scaglia, Ulrike Schara, Kurenai Tanji, Mark Tarnopolsky, and Patrick Yu-Wai-Man

Published
2016
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2. Mitochondrial DNA Depletion Syndromes Presenting in Childhood

Author

Marni J. Falk, Emily Place, Xiaowu Gai, and Shana E. McCormack

Subjects
Genetics, Mitochondrial DNA, Mitochondrial DNA depletion syndrome, medicine, Clinical case, Biology, medicine.disease, Human mitochondrial genetics, Function (biology)
Abstract

Maintaining mitochondrial DNA content and integrity is essential for normal mitochondrial function. A growing number of childhood-onset mitochondrial DNA depletion syndromes have been described where the processes that typically function to ensure adequate mitochondrial DNA content are impaired. Here, we present an illustrative clinical case of an infant with a mitochondrial DNA depletion syndrome. We also review the various molecular defects that can underlie this group of conditions and summarize important clinical considerations in their diagnosis and management.

Published
2016
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3. Leg length and sitting height reference data and charts for children in the United States

Author

Colin Patrick Hawkes, Sogol Mostoufi-Moab, Shana E McCormack, Adda Grimberg, and Babette S. Zemel

Subjects
Height, Sitting height, Skeletal dysplasia, Reference, Data, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
Abstract

Population-specific reference data are required to interpret growth measurements in children. Sitting height and leg length (standing height minus sitting height) measurements are indicators of proportionality and can be used to evaluate children with disordered growth. NHANES III recorded sitting height and standing height measurements in a strategic random sample of the United States population from 1988 to 1994, and we have previously published reference charts for sitting height to standing height ratio in this population. In this study, we have developed separate sitting height and leg length reference charts for Non-Hispanic Black, Non-Hispanic White, and Mexican-American children in the United States. In addition, we provide mean (SD) and LMS data to support the use of these reference charts in clinical care.

Published
2020
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