Results 171 to 180 of about 6,756,839 (296)

Commentary: Post-traumatic benign paroxysmal positional vertigo: mechanisms, clinical phenotypes, and a structured clinical pathway for management. [PDF]

Front Neurol
Rust HM, Smith RM, Seemungal BM.
europepmc   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Beyond Referral: Symptoms Still Matter in Severe Aortic Stenosis

Structural Heart
Nicholas Spetko, MD, Jordan B. Strom, MD, MSc   +1 more
doaj   +1 more source

Correction: Melanoma toolkit for early detection for primary care clinicians: a 1-year follow-up on outcomes. [PDF]

Front Med (Lausanne)
Diehl K, Stoos E, Becker A, Orfaly VE, Nelson J, Gillespie J, Ng J, Tobey T, Latour E, Ludzik J, Berry EG, Geller AC, Jacobe H, Leitenberger J, McClanahan D, Tran J, Prasad S, Mengden-Koon S, Nelson KC, Petering R, Verdieck A, Savory S, Smith EH, Tofte S, Weinstock MA, White K, Wisco O, Curiel-Lewandrowski C, Swetter SM, Witkowski AM, Ferris L, Black S, Xu R, Xu S, Leachman S.   +34 more
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Development of the First Patient-Reported Experience Measure (PREM) for Hearing Loss in Audiology Care-My Hearing PREM. [PDF]

Health Expect
English K.
europepmc   +1 more source

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

Author Correction: External validation of artificial intelligence for detection of heart failure with preserved ejection fraction

Nature Communications
Ashley P. Akerman, Nora Al-Roub, Constance Angell-James, Madeline A. Cassidy, Rasheed Thompson, Lorenzo Bosque, Katharine Rainer, William Hawkes, Hania Piotrowska, Paul Leeson, Gary Woodward, Patricia A. Pellikka, Ross Upton, Jordan B. Strom   +13 more
doaj   +1 more source

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

ACP4 Variants in Hypoplastic Amelogenesis Imperfecta. [PDF]

Calcif Tissue Int
Liu L, Au CW, Hany U, Rigby AL, Chauhan A, Brown C, Sims J, Murillo G, Acosta de Carmargo MG, Inglehearn CF, Watson CM, Mighell AJ, Smith CEL.   +12 more
europepmc   +1 more source