Results 141 to 150 of about 20,779 (267)

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source

Modifiable Risk Factors and Hearing Loss: The National Health and Nutrition Examination Survey 1999–2020

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To explore the associations between major modifiable risk factors and hearing loss. Methods This serial cross‐sectional study was conducted within the National Health and Nutrition Examination Survey 1999–2020 in the United States. Associations were assessed using modified Poisson regression and within‐sample population attributable ...
Yulu Zheng, Tingting Li, Zhiyuan Wu, Yahong Zhu, Zheng Guo, Xingang Li   +5 more
wiley   +1 more source

Correspondence on “First year result and insights from the Mexican Rare Disease Patient Registry from Cesar E. Calvo Aspiros and Claudia Gonzaga-Jauregui

Rare
Marcela Vela-Amieva, Cynthia Fernández-Lainez   +1 more
doaj   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel, Brad Graham, Kaci Reaves, Mya Phelps   +3 more
wiley   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
doaj   +1 more source

Pulmonary surveillance in inborn errors of immunity: current challenges and emerging approaches. [PDF]

Front Immunol
Hoptioncann E, Eddy RL, Biggs CM, Rayment JH.   +3 more
europepmc   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 more
europepmc   +1 more source

The cerebral palsy directed acyclic graph: A structural causal model of aetiology

Developmental Medicine &Child Neurology, EarlyView.
The first international cerebral palsy directed acyclic graph (CP‐DAG) maps over 100 nodes and 370 links across biological, clinical, and social domains, offering a unified causal framework to guide research and identify knowledge gaps. Abstract Aim To describe the development of the initial version of the cerebral palsy (CP) directed acyclic graph ...
Shona Goldsmith, Sarah McIntyre, Nadia Badawi, Bernard Dan, Steven Day, Kate Himmelmann, Sandra Julsen Hollung, Bo Jacobsson, Gija Rackauskaite, Robert J. Reynolds   +9 more
wiley   +1 more source