Results 61 to 70 of about 6,948 (153)

Population Screening for Genetic Disease [PDF]

, 1977
Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
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GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, Sandra Strollo, Simona Fecarotta, M. Rosaria Tuzzi, Elena Polishchuk, Sandro Montefusco, Anna Valanzano, Antonia Assunto, Nadia Minopoli, Roberto Della Casa, Roman Polishchuk, Stijn L. M. in 't Groen, Diego Luis Medina, Enrico Bertini, Rosalba Carrozzo, Julia Emmerich, Benedikt Schoser, W. W. M. Pim Pijnappel, Giancarlo Parenti   +20 more
wiley   +1 more source

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]

, 2017
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F, Diogo, L, Ferreira, S, Garcia, P, Gonçalves, I, Moinho, R, Pinto, C   +6 more
core   +1 more source

Association between bioelectrical impedance analysis parameters and metabolic dysfunction–associated steatotic liver disease relative to handgrip strength in children and adolescents in Korea: A comparative study

Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 1, Page 56-66, January 2026.
Abstract Background Investigations on the association among bioelectrical impedance analysis, handgrip strength, and metabolic dysfunction–associated steatotic liver disease (MASLD) in children and adolescents are limited. Therefore, the present study explored the relationship between bioelectrical impedance analysis parameters, handgrip, and MASLD in ...
Kyungchul Song, Eunju Lee, Hye Sun Lee, Hana Lee, Joon Young Kim, Youngha Choi, Hyun Wook Chae   +6 more
wiley   +1 more source

Metabolic correlates of prevalent mild cognitive impairment and Alzheimer's disease in adults with Down syndrome. [PDF]

, 2020
IntroductionDisruption of metabolic function is a recognized feature of late onset Alzheimer's disease (LOAD). We sought to determine whether similar metabolic pathways are implicated in adults with Down syndrome (DS) who have increased risk for ...
Alzheimer's Biomarkers Consortium–Down Syndrome (ABC‐DS) Investigators, Cheema, Amrita K, Christian, Bradley T, Gross, Thomas J, Handen, Benjamin L, Head, Elizabeth, Klunk, William E, Lott, Ira T, Macciardi, Fabio, Mapstone, Mark, Petersen, Melissa, Schupf, Nicole, Silverman, Wayne   +12 more
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Multi‐Decadal Analysis on the Impact of Climate Change, Genetic Gain, Cultivar Type, and Harvest Timing on Main and Ratoon Rice Yield and Quality

Global Change Biology, Volume 32, Issue 1, January 2026.
An analysis of 33 years of data estimated the impact of climate change, genetic gain, cultivar type, and harvest timing on rice yield and quality. Degree‐days (˚D) and atmospheric [CO2] have increased 11.6% and 18.4%, respectively. Several climatic variables have impacted grain yield, some positively and some negatively, and many have reduced grain ...
Lloyd T. Wilson, S. Omar P. B. Samonte, Y. Yang   +2 more
wiley   +1 more source

Teduglutide in pediatric patients under 10 kg with short bowel syndrome on parenteral support: An open‐label study

Pediatrics International, Volume 68, Issue 1, January/December 2026.
Abstract Background Patients with short bowel syndrome (SBS)‐associated intestinal failure (SBS‐IF) are dependent on parenteral support (PS). In Japan, teduglutide is the only GLP‐2 analog medicine indicated for these patients. There are limited data for pediatric patients, especially those with a low body weight.
Kouji Masumoto, Mitsuru Muto, Takato Sasaki, Mitsuhiro Shikamura, Tomoko Tanaka, Sho Sakui, Masakazu Miyamoto, Hiroya Nakano, Taisuke Kondo, Satoshi Ieiri   +9 more
wiley   +1 more source

Dissecting Vegetative Period Into Its Phenotypic and Genotypic Components Allows Environment‐Specific Breeding in Lentil (Lens culinaris Medik)

Physiologia Plantarum, Volume 178, Issue 1, January/February 2026.
ABSTRACT In legumes, flowering time is regulated by genes responsive to temperature and photoperiod, presenting challenges for high‐latitude lentil producers who must adapt cultivars to short growing seasons and extended daylight hours. Therefore, prolonged vegetative periods are favored in those areas.
Salvador Osuna‐Caballero, Taryn Heidecker, James L. Weller, Kirstin E. Bett   +3 more
wiley   +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
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