Results 151 to 160 of about 198,582 (348)

Bone health in patients with inborn errors of metabolism

Reviews in Endocrine & Metabolic Disorders, 2018
Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and
M. Langeveld, C. Hollak
semanticscholar   +1 more source

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, EarlyView.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller, Emily Brown, Susan Christian, Melissa A. Kelly, Linda M. Knight, Sara Saberi, Christina Rigelsky, Jodie Ingles   +7 more
wiley   +1 more source

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

Molecular Genetics and Metabolism Reports, 2020
Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj  

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

International Journal of Neonatal Screening, 2015
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently
Esther M. Maier
doaj   +1 more source

Fifteen years experience: Egyptian metabolic lab [PDF]

, 2014
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the ...
Abdallah, Z Y, Fateen, E M, Ibrahim, M S
core   +1 more source

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda, Fernández Ramos, Joaquín A., Friedman, Jennifer, Garcia Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, Jeltsch, Kathrin, Jung Klawitter, Sabine, Kurian, Manju A., Kuseyri, Oya, Lopez Laso, Eduardo, MASTRANGELO, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl Bürgi, Sabine, Wassenberg, Tessa   +16 more
core   +1 more source

The Role of Proton Magnetic Resonance Spectroscopy in Neonatal and Fetal Brain Research

Journal of Magnetic Resonance Imaging, EarlyView.
The biochemical composition and structure of the brain are in a rapid change during the exuberant stage of fetal and neonatal development. 1H‐MRS is a noninvasive tool that can evaluate brain metabolites in healthy fetuses and infants as well as those with neurological diseases.
Steve C.N. Hui, Nickie Andescavage, Catherine Limperopoulos   +2 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

Term infant formula macronutrient composition: An update for clinicians

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Protein, carbohydrates, and fats comprise the macronutrient components of infant formulas. While all infant formulas in the United States meet specific nutrition standards, the macronutrient composition of formulas is diverse. Each macronutrient in the formula may play a role in treating or managing the disease.
Catherine Larson‐Nath, Anam Bashir, Rachel E. Herdes, Bridget Kiernan, Joanne Lai, Nicole Martin, Nicole Misner, Akash Pandey, Kanika Puri, Wenjing Zong, Debora Duro   +10 more
wiley   +1 more source

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

Molecular Genetics and Metabolism Reports, 2020
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj