Results 211 to 220 of about 740,304 (299)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Archaeological Reconnaissance for Middle Stone Age Sites Along the Pondoland Coast, South Africa

PaleoAnthropology, 2022
Erich C. Fisher, Melanie Poupart, Justin Pargeter, Frank H. Neumann, Curtis W. Marean, Antonieta Jerardino, Zenobia Jacobs, Jacob Harris, Irene Esteban, Hayley C. Cawthra, Greg Botha, Rosa-Maria Albert, and Jan Venter   +12 more
doaj  

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Active migration technique in RIRS for 1- to 2-cm middle and upper ureteral stones in a prospective randomized controlled study. [PDF]

BJUI Compass
Liang P, Tang QL, Mao JJ, Zhang YX, Li YP, Zhou XZ, Tao RZ.   +6 more
europepmc   +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

Confessions of a Poverty Researcher: My Journey Through the Foothills of Scholarship

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper describes the key events, experiences and ideas that influenced the author's career as a poverty researcher. He describes how his early disillusion with economics was replaced by a spark of interest in social issues and how his migration from the UK to Australia in the mid‐1970s provided the impetus to begin what became a lifetime ...
Peter Saunders
wiley   +1 more source

Specialised and persistent raw material procurement by humans in the Middle Pleistocene. [PDF]

Nat Commun
Will M, Sommer C, Möller GHD, Botha GA, Blessing MA, Msimanga L, Mazel A, Val A, Venditti F, Riedesel S.   +9 more
europepmc   +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

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source

Lung maneuvers of large amplitudes for probing physiological alterations in mouse models of asthma

Animal Models and Experimental Medicine, EarlyView.
Lung maneuvers of small amplitudes, such as the ones performed in oscillometry, are the current gold standard to probe lung mechanics in animals, but they are insensitive to detect baseline physiological alterations in mouse models of asthma. Herein, lung maneuvers of different amplitudes were compared in two mouse models of asthma.
Magali Boucher, Cyndi Henry, Marie‐Josée Beaulieu, Andrés Rojas‐Ruiz, Ynuk Bossé   +4 more
wiley   +1 more source