Results 251 to 260 of about 303,635 (348)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

6ER-017 Assessment of drug prescription using the world health organisation (who) indicators at a public hospital

, 2018
Dwi Endarti, Anak Agung Sagung Sawitri, Chairun Wiedyaningsih   +2 more
openalex   +2 more sources

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

Nurse prescribing in Polish nurses’ opinions. A comparative study between 2016 and 2021

Family Medicine & Primary Care Review
Anna Bartosiewicz, Jerzy Krukowski, Agnieszka Zalas   +2 more
doaj   +1 more source

Soaring Prescription Drug Prices [PDF]

Policy, Politics, & Nursing Practice, 2016
openaire   +2 more sources

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

Trends in acid suppressant drug prescriptions in primary care in the UK: a population-based cross-sectional study. [PDF]

BMJ Open, 2020
Abrahami D, McDonald EG, Schnitzer M, Azoulay L.   +3 more
europepmc   +1 more source

THE STRUCTURE OF DRUG PRESCRIPTION IN ACUTE CORONARY SYNDROME WITHOUT ST SEGMENT ELEVATION ON THE FIRST DAY OF HOSPITAL THERAPY

, 2009
O. V. Reshetko, Н. В. Фурман, Р. М. Магдеев   +2 more
openalex   +2 more sources

Dabigatran Concentrations in an Actively Breastfeeding Mother–Infant Dyad: Extending the Evidence for Oral Thromboprophylaxis Postpartum

American Journal of Hematology, EarlyView.
Rasmus W. Green, Aljona Saleh, Pawel Baranczewski   +2 more
wiley   +1 more source

Culturally Safe Assistive Technology Provision in Australia: Concept Mapping Perspectives From Aboriginal and Torres Strait Islander People

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disparities in Assistive Technology (AT) access exist for Aboriginal and Torres Strait Islander peoples despite recent policy reforms. This paper brings together First Nations and Western academic ways of being, knowing and doing to deliver an AT practice analysis based upon primary data from two research reports into the cultural safety of AT
Shane Hearn, Vanessa Langenberg, Kristy Harper, Libby Callaway, Hilary O'Connell, Eleanor Kennett‐Smith, Natasha Layton   +6 more
wiley   +1 more source