Results 141 to 150 of about 2,729,552 (357)

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

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

Homocystinuria: A New Inborn Error of Metabolism Associated With Mental Deficiency [PDF]

, 1963

openalex   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Orphanet Journal of Rare Diseases, 2016
BackgroundInborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and
M. Alfadhel, Mohammed Benmeakel, M. A. Hossain, F. Al Mutairi, Ali Al Othaim, Ahmed Alfares, M. A. Al Balwi, Abdullah Alzaben, W. Eyaid   +8 more
semanticscholar   +1 more source

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

The Turkish Journal of Pediatrics, 2019
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental ...
Halil İbrahim Aydın, Fatma Müjgan Sönmez   +1 more
doaj   +1 more source

Inborn Errors of Metabolism. Part 2: Laboratory Methods [PDF]

, 1966

openalex   +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

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

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Scientific Reports, 2019
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff   +6 more
doaj   +1 more source

Diagnosis and treatment of progressive multiple sclerosis: A position paper

European Journal of Neurology, Volume 30, Issue 1, Page 9-21, January 2023., 2023
Abstract Background and Purpose Multiple sclerosis (MS) is an unpredictable disease characterised by a highly variable disease onset and clinical course. Three main clinical phenotypes have been described. However, distinguishing between the two progressive forms of MS can be challenging for clinicians.
Carlo Pozzilli, Maura Pugliatti, Patrick Vermersch, Nikolaos Grigoriadis, Mona Alkhawajah, Laura Airas, Celia Oreja‐Guevara   +6 more
wiley   +1 more source