Results 241 to 250 of about 1,400,848 (384)

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

Stakeholder views about the responsibilities of principal investigators in multicenter randomized controlled trials. [PDF]

Clin Trials
Joffe S, Bair EF, Gleason KA, Sellers DE, McGraw SA, Gross CP, Chen DT, Campbell EG, Mello MM.   +8 more
europepmc   +1 more source

Empirical and normative ethics

Nursing Ethics, 2011
Lise-Lotte Jonasson, P. Liss, Björn Westerlind, C. Berterö   +3 more
semanticscholar   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Information and misinformation on assisted human reproduction techniques in Europe: a normative analysis of the information provided on the websites of medically assisted reproduction clinics. [PDF]

BMC Med Ethics
Albert M, Tapia R, Farfán J, Vicente A, Muñoz S, Toribio-López M, Carrasco JM, De Bayas Sanchez A, Fuller M, Barrett N, Güell F.   +10 more
europepmc   +1 more source

The Art of Imagination at the Intersection of Pramāṇa and Samaya: Normative Epistemology and Tantric Ethics in Early Philosophical Vajrayāna

Dominic Sur
openalex   +1 more source

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

American Journal of Hematology, EarlyView.
Mofiyin A. Obadina, Sherri Morris, Tara Alin, Barbara LeVarge, Jane A. Little   +4 more
wiley   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Mapping heterogeneous brain structural subtypes in alzheimer's disease and mild cognitive impairment using normative models. [PDF]

Transl Psychiatry
Wei X, Zhang T, Xiong R, Zhang Q, Zhang J, Jin Z, Li L.   +6 more
europepmc   +1 more source

NORMATIVE ANALYSIS OF PROFESSIONAL ETHICS AND LEGAL ACCOUNTABILITY OF HEALTH WORKERS IN THE IMPLEMENTATION OF INFORMED CONSENT

Teguh Adi Partama, Marsudi Dedi Putra
openalex   +2 more sources