Results 171 to 180 of about 26,055 (351)

Use of the i‐PARIHS framework in nutrition and dietetics research and practice: A citation analysis of the literature and case studies

Nutrition in Clinical Practice, EarlyView.
Abstract Theoretical approaches can help to plan, guide, and evaluate implementation projects that target real‐world practice problems. This paper provides an overview of the integrated Promoting Action on Research Implementation in Health Services (i‐PARIHS) framework and summarizes its use in nutrition and dietetics research and practice. A narrative
Adrienne M. Young, Angela Byrnes, Prue McRae, Alison Mudge   +3 more
wiley   +1 more source

An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum

, 1978
Emanuel Epstein
openalex   +2 more sources

Selective screening for inborn errors of metabolism-past, present and future [PDF]

, 1994
Gustav Hoffmann
openalex   +1 more source

Comparing the Audiological Success of Bone Cement to Standard Ossiculoplasty Techniques: A Systematic Review and Meta‐analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To compare the audiological success and longevity of bone cement to standard ossiculoplasty techniques. Data Sources PubMed, Embase, Cochrane Library, Medline, and the Web of Science were systematically searched for studies from the date of inception to November 8, 2024.
Natasha Dowell, Shayma Begum, Christopher Coulson, Hannah Nieto, Jameel Muzaffar   +4 more
wiley   +1 more source

Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?

, 1979
Shiro Hayashi, Atsushi Kimura, Ryoichi Hoshino, Kiyoshi Takahashi, KOICHI TSURUMI   +4 more
openalex   +2 more sources

Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]

, 1992
Michaël Fayon
openalex   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism. [PDF]

JIMD Rep
Nourbakhsh M, Miryounesi M, Tale A, Karimzadeh P, Sadeghi H, Ghasemi MR, Alipour N, Pourbakhtyaran E, Hooman N, Razzaghy-Azar M, Nourbakhsh M, Klaas L, Schulke D, Sass JO.   +13 more
europepmc   +1 more source