Results 121 to 130 of about 24,798 (312)

A price check on the ketogenic diet for adults with epilepsy in Australia

Epilepsia Open, EarlyView.
Abstract Objective The ketogenic diet is an established and effective treatment for drug‐resistant epilepsy and is an emerging therapy for other conditions. Affordability of therapeutic ketogenic diets for epilepsy has not been well studied. This study aimed to compare weekly cost of ketogenic diets with national dietary guidelines and a typical ...
Lillian King, Jessica Maccarrone, Ashwinpreet Kaur, Susanna Chen, Patrick Kwan, Terence J. O'Brien, Neha Kaul   +6 more
wiley   +1 more source

Inborn errors of metabolism

, 2001
Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core  

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?

Orphanet Journal of Rare Diseases
Background Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease
María Daniela Santacruz Reyes, Jörn Oliver Sass   +1 more
doaj   +1 more source

Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review

Molecular Genetics and Metabolism Reports
Broad biochemical complexity and frequent overlapping clinical symptoms of inborn errors of metabolism (IEM), especially in energy-deficient patients, make accurate diagnosis difficult.
Fatimah Diana Amin Nordin, Affandi Omar, Balqis Kamarudin, Timothy Simpson, Julaina Abdul Jalil, Yuh Fen Pung   +5 more
doaj   +1 more source

Subclinical cardiac alterations and cardiometabolic profile in adolescents with newly diagnosed polycystic ovary syndrome: A cross‐sectional comparative echocardiographic study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective While cardiometabolic comorbidities have been well established in adults with polycystic ovary syndrome (PCOS), it remains unclear whether the early signs of cardiovascular morbidity emerge during adolescence. This study aimed to investigate whether metabolic and cardiovascular alterations begin in adolescents with PCOS.
Demet Aygün Ari, Melis Pehlivantürk Kizilkan, Musa Öztürk, İlker Ertuğrul, Hayrettin Hakan Aykan, Tevfik Karagöz, Nuray Kanbur, Orhan Derman, Sinem Akgül   +8 more
wiley   +1 more source

The inborn errors of metabolism: general aspects

, 2010
Historical perspective—inborn errors of metabolism were first recognized by Archibald Garrod, whose studies illustrated the dynamic aspects of human biochemistry and how unitary hereditary factors caused variation in the turnover of physiological ...
Richard W.E. Watts, T.M. Cox
core   +1 more source

A Framework to Establish Diet and Nutrition Competencies for Oral Health Care Education

Journal of Dental Education, EarlyView.
ABSTRACT Objective: To prevent and manage oral disease, oral health care practitioners (OHCPs) must provide dietary counseling based on nutrition science. OHCPs are often ill‐equipped to provide such counseling due to fragmented and inadequate dietary education, which is typically attributed to limited curricular time or appropriately qualified faculty.
Teresa A. Marshall, Michael Crowe, Riva Touger‐Decker   +2 more
wiley   +1 more source

221 Newborn-Screened Neonates with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Findings from the Inborn Errors of Metabolism Collaborative

, 2016
Introduction: There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening ...
Berry, S, Dodge, M, Singh, R, Kronn, David, Cameron, C, Vockley, J, Burton, B, Inborn Errors of Metabolism Collaborative, Arnold, G, Bentler, K, Edick, M, Zhai, S, Elsbecker, S, Thomas, J, Lakshman, S, Hiner, S   +15 more
core   +1 more source

Clinical Spectrum of Inborn Errors of Metabolism in Children in a Tertiary Care Hospital [PDF]

, 2020
INTRODUCTION: Inborn errors of metabolism are the hereditary diseases which occurs due to disturbances in normal biochemical process. Although individual diseases are rare, they collectively cause significant amount of morbidity and mortality.
Jayashree, K R
core  

Patient and hospitalization differences in incarcerated versus nonincarcerated men: Insights from a 10‐year cohort study

Journal of Hospital Medicine, EarlyView.
Abstract Background The incarcerated population in the United States is underserved and aging rapidly; there is a dearth of information regarding their health, including hospital care. Epidemiological information is crucial to guide policymakers’ planning.
Farah Acher Kaiksow, Amir Forati, Kristin Merss, Karen Reece, Marguerite Burns, Eduard Eric Vasilevskis   +5 more
wiley   +1 more source