Results 71 to 80 of about 1,252,227 (269)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Diversidad alimentaria y factores asociados en beneficiarios de 77 multihogares de cuidado diario: región central de Venezuela Dietary diversity and associated factors among beneficiaries of 77 child care centers: Central Region, Venezuela

Archivos Latinoamericanos de Nutrición, 2003
RESUMEN. El objetivo de este estudio es evaluar la calidad de la dieta del hogar, utilizando el puntaje de diversidad alimentaria y su asociación con factores demográficos y socioeconómicos. Se estudiaron 153 hogares representativos de 77 Multihogares de
Jennifer Bernal Rivas, Paulina Lorenzana Albert   +1 more
doaj  

Opinion del usuario externo sobre la escuela para padres del hospital Dr. Victorino Santella. Venezuela

Revista de Salud Pública, 2014
Se consultó la opinión de usuarios externos de la Escuela para Padres que funciona en el Hospital Dr. Victorino Santaella de Los Teques, en el estado Miranda que asistieron durante el período 2006-2010. El estudio fue descriptivo, modalidad de campo, de
E. Gómez Guerra Wuilman, Evelin Torres Arráez   +1 more
doaj   +1 more source

Estados de alma de Celene Salgado-Miranda

La Colmena, 2015
Ensayo sobre la fotografa Celene Salgado Miranda.
openaire   +2 more sources

Factibilidad de implementación de huertos orgánicos familiares en Pantano Abajo, municipio Miranda, estado Falcón, Venezuela

Agroecología Global. Revista Electrónica de Ciencias del Agro y Mar, 2022
Con el propósito de analizar la posibilidad para el desarrollo de huertos orgánicos familiares en el sector Pantano Abajo del municipio Miranda, estado Falcón. Se realizó un trabajo no experimental, descriptivo de campo; la muestra estuvo conformada por 20 familias a las cuales se les aplicó un cuestionario autoadministrado para conocer la información ...
openaire   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Ensayo metodológico de planificación física de una autovía en el Estado Miranda (Venezuela)

, 2003
Planning taking into account the environment is fundamental to develop the human and environmental potencial of a territory. Nevertheless, the lack of geographical information in Southamerica makes it difficult for developers to use this technique. This article describes an essay of planning a ficticious highway with this restriction.
García Montero, Luis Gonzaga, Bravo, D., Mancebo Quintana, Santiago, Pascual Castaño, Isabel Cristina, García Cañete, José Javier, García Abril, Antonio Damián   +5 more
openaire   +3 more sources