Results 161 to 170 of about 39,677 (355)
The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]
, 1985 J. B. Holton
openalex +1 more source
“It's just us”: Families' experiences with temporary tube feeding
Nutrition in Clinical Practice, EarlyView.Abstract Background Children with temporary feeding tubes are discharged home with increasing frequency, yet little is known about how families adapt and manage in their home environment. Whereas the physical side effects of temporary feeding tubes are well documented, the psychosocial impact on families remains underresearched. Understanding families'
Claire Reilly +4 more
wiley +1 more source
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]
, 1990 Marie S. Buchmann +6 more
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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 +3 more
wiley +1 more source
An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum
, 1978 Emanuel Epstein
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Selective screening for inborn errors of metabolism-past, present and future [PDF]
, 1994 Gustav Hoffmann
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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 +4 more
wiley +1 more source
Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?
, 1979 Shiro Hayashi +4 more
openalex +2 more sources
Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]
, 1992 Michaël Fayon
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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 +7 more
wiley +1 more source