Results 91 to 100 of about 166,597 (269)

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study

Saudi Journal of Medicine and Medical Sciences
Background: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations. Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period.
Awatef Jelassi, Fahmi Nasrallah, Emna Talbi, Mohamed Bassem Hammami, Rihab Ghodbane , Haifa Sanhaji , Moncef Feki, Naziha Kaabachi, Sameh Hadj-Taieb   +8 more
doaj   +1 more source

Sophie Claiborne's Upset Stomach - an Ornithine Transcarbamoylase Deficiency Problem-Based Learning Case

MedEdPORTAL, 2007
This resource is a problem-based learning (PBL) case featuring a female patient who has problems with food containing protein. As the case progresses it becomes evident that there is a problem handling any quantity of protein and that this problem may be
Marshall Anderson, Mary Kirkish
doaj   +1 more source

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Molecular Genetics & Genomic Medicine, 2023
Background The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang   +8 more
doaj   +1 more source

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko, Carmen Rohde, Claudia Matthies, Joachim Thiery, Linda Kortz, Mathias Bruegel, Michael Müller, Skadi Beblo, Ulrike Mütze, Uta Ceglarek, Wieland Kiess   +10 more
core   +2 more sources

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, EarlyView.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum

Frontiers in Cell and Developmental Biology, 2016
Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J.A. Wanders, Hans R. Waterham, Sacha eFerdinandusse   +2 more
doaj   +1 more source

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke, Lahiru Wedasingha, Magnus Rydberg   +2 more
wiley   +1 more source

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj   +1 more source

Nature's Starships. I. Observed Abundances and Relative Frequencies of Amino Acids in Meteorites [PDF]

, 2014
The class of meteorites called carbonaceous chondrites are examples of material from the solar system which have been relatively unchanged from the time of their initial formation. These meteorites have been classified according to the temperatures and physical conditions of their parent planetesimals.
arxiv   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source