Results 111 to 120 of about 17,750 (254)

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., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +1 more source

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
doaj   +1 more source

Genetic-Metabolic News [PDF]

, 1973
This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...

core   +1 more source

Real‐World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Pegzilarginase is the first disease‐modifying drug for arginase 1 deficiency. In clinical trials, pegzilarginase effectively normalised plasma arginine (pArg), which was associated with clinically relevant improvements in neuromotor outcomes. We report from a French early access scheme the first report on experience from pegzilarginase therapy
Anaïs Brassier, Alina Arion, Jean‐Baptiste Arnoux, Magalie Barth, Dries Dobbelaere, Magali Gorce, Michael Grövdal, Cécile Laroche, Olivia Rime, Manuel Schiff, Mattias Rudebeck   +10 more
wiley   +1 more source

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Cell Journal, 2016
Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its ...
Somayeh Ahmadloo, Saeed Talebi, Mohammad Miryounesi, Parvin Pasalar, Mohammad Keramatipour   +4 more
doaj  

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, Volume 7, Issue 2, Page 266-270, May 2026.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism [PDF]

Archives of Disease in Childhood, 1961
B, LEVIN, H M, MACKAY, V G, OBERHOLZER
openaire   +2 more sources