Cargando…

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to protocols that improve clinical detection, counseling, and m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gold, Jessica I., Madhavan, Sarina, Park, Joseph, Zouk, Hana, Perez, Emma, Strong, Alanna, Drivas, Theodore G., Karaa, Amel, Yudkoff, Marc, Rader, Daniel, Green, Robert C., Gold, Nina B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10428110/ https://www.ncbi.nlm.nih.gov/pubmed/37593415 http://dx.doi.org/10.1016/j.xhgg.2023.100226

Ejemplares similares

The Medical Unit of the O.T.C.
Publicado: (1910)

Cardiorenal Safety of OTC Analgesics
por: White, William B., et al.
Publicado: (2018)

Bréve: Chloroquine OTC : danger !
por: Dalmat, Yann-Mickael
Publicado: (2020)

Bréve : Chloroquine OTC : danger !
por: Dalmat, Yann-Mickael
Publicado: (2020)

Where to buy OTC medications? A cross-sectional survey investigating consumers’ confidence in over-the-counter (OTC) skills and their attitudes towards the availability of OTC painkillers
por: Brabers, A E M, et al.
Publicado: (2013)

The ABCs of OTCs: A Video-Based Curriculum Regarding Over-the-Counter Pediatric Products
por: Higgins Joyce, Alanna, et al.
Publicado: (2023)

Use of OTC-drugs prior to Hospitalization
por: Pedersen, Magnus, et al.
Publicado: (2013)

Marketing approaches for OTC analgesics in Bulgaria
por: Petkova, Valentina, et al.
Publicado: (2014)

Evolution of Matrix Gla and Bone Gla Protein Genes in Jawed Vertebrates
por: Leurs, Nicolas, et al.
Publicado: (2021)

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization
por: Blout Zawatsky, Carrie L., et al.
Publicado: (2021)

OTC analgesics and drug interactions: clinical implications
por: Fendrick, A Mark, et al.
Publicado: (2008)

SAT-497 Importance of OTC Medications in Hypercalcemia
por: Yedla, Niharika, et al.
Publicado: (2019)

OTC product: Kleenex Anti-Viral tissue
por: Spencer, Beth P.
Publicado: (2008)

Consumer Impressions of the Safety and Effectiveness of OTC Medicines
por: Taylor, Jeffrey Gordon, et al.
Publicado: (2023)

Consumer Likelihood to Seek Information on OTC Medicines
por: Taylor, Jeffrey G., et al.
Publicado: (2023)

Sortilin as a Regulator of Lipoprotein Metabolism
por: Strong, Alanna, et al.
Publicado: (2012)

The practice of OTC counseling by community pharmacists in Parana, Brazil
por: Halila, Gerusa C., et al.
Publicado: (2015)

The Network of Counterparty Risk: Analysing Correlations in OTC Derivatives
por: Nanumyan, Vahan, et al.
Publicado: (2015)

Impact of delisting OTC medicines from reimbursement list
por: Chytilová, Petra, et al.
Publicado: (2015)

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium
por: Sysák, Rastislav, et al.
Publicado: (2022)

Use patterns of over-the-counter (OTC) medications and perspectives on OTC medications among Korean adult patients with chronic diseases: gender and age differences
por: Kim, Hyun Jeong, et al.
Publicado: (2018)

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
por: Nguyen, Huy-Hoang, et al.
Publicado: (2020)

Matrix Gla protein in tumoral pathology
por: GHEORGHE, SIMONA ROXANA, et al.
Publicado: (2016)

Global securities markets: navigating the world's exchanges and OTC markets
por: Arnett, George W
Publicado: (2011)

The Efficacy of Selected Desensitizing OTC Products: A Systematic Review
por: Talioti, E., et al.
Publicado: (2014)

Experience with oral emergency contraception since the OTC switch in Germany
por: Kiechle, Marion, et al.
Publicado: (2016)

Improving the provision of OTC medication information in community pharmacies in Poland
por: Piecuch, Anna, et al.
Publicado: (2016)

Evidence-based treatment recommendations for OTC management of chronic constipation
por: Rao, Satish S.C., et al.
Publicado: (2022)

OTC Omeprazole for Your Heartburn - Enormous Value-for-Money Opportunity
por: Curtiss, Frederic R.
Publicado: (2004)

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about
por: Karaa, Amel, et al.
Publicado: (2013)

The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant
por: Al-Obaide, Mohammed A., et al.
Publicado: (2022)

A Web-Based System for Mapping Laboratory Networks: Analysis of GLaDMap Application
por: Mukhi, Shamir N, et al.
Publicado: (2012)

Effectiveness and legitimacy of forest carbon standards in the OTC voluntary carbon market
por: Merger, Eduard, et al.
Publicado: (2011)

Swaps y otros derivados OTC en tipos de interés
por: Lamothe, Prosper
Publicado: (1996)

Treatment of Herpes Labialis: Comparison of Two OTC Drugs and Untreated Controls
por: McCarthy, James P, et al.
Publicado: (2012)

Urticarial vasculitis induced by OTC diet pills: a case report
por: Chérrez Ojeda, Iván, et al.
Publicado: (2015)

MON-033 Evaluating the Estrogen Activity of OTC Products Containing Parabens
por: Baer, Caroline, et al.
Publicado: (2019)

2127. Parental Acceptance of Over-the-Counter (OTC) Testing for Streptococcal Pharyngitis
por: Szigeti, Aviva, et al.
Publicado: (2019)

Benefit of OTC Formula Against COVID-19 Is Explained by Selection Bias
por: Hemilä, Harri
Publicado: (2021)

Benefit of OTC Formula Against COVID-19—Statistical Analysis Explained
por: Margolin, Leon, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_d9r2dd7hbmk18fmgcia743q4eh