Results 221 to 230 of about 132,412 (405)
Book Review: Inborn Errors of Calcium and Bone Metabolism [PDF]
, 1977 B. E. C. Nordin
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Attitudes toward the Income Gap: Japan-U.S. Comparison [PDF]
Employing the Japan-U.S. international survey, this study analyzed the cause of rising perception of the widening income gap in Japan. Between these two countries, their distinct value judgments on the substance of gap influence their recognition ...
Fumio Ohtake, Shinji Takenaka
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Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. [PDF]
, 1986 Peter T. Clayton +5 more
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Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
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D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism [PDF]
, 1987 M. Durán +4 more
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ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. [PDF]
, 1989 A Green
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A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
Autism Research, Volume 15, Issue 12, Page 2371-2380, December 2022., 2022 Abstract The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored.
Timothy C. Nielsen +8 more
wiley +1 more source
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
wiley +1 more source