Results 1 to 10 of about 24,798 (312)

Inborn errors of metabolism

, 2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common.
Ferreira, Carlos R., Carlos R. Ferreira, Clara D.M. van Karnebeek, van Karnebeek, Clara D. M.   +3 more
core   +3 more sources

Movement Disorders in Treatable Inborn Errors of Metabolism

Movement Disorders, 2019
There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with
Darius Ebrahimi-Fakhari, Alexander Münchau   +1 more
exaly   +2 more sources

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and ...
Ezgu, FATİH SÜHEYL, Fatih Ezgu
core   +4 more sources

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Journal of Laboratory Medicine, 2021
Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu   +5 more
doaj   +1 more source

Assessment of auditory functions in patients with hepatic glycogen storage diseases

The Turkish Journal of Pediatrics, 2022
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı, Fatih Ezgü, İlyas Okur, Aslı İnci, Ayşe Kılıç, Ekin Özsaydı, Bülent Gündüz, Hakan Tutar, Nuriye Yıldırım Gökay, Leyla Tümer   +9 more
doaj   +1 more source

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France

Orphanet Journal of Rare Diseases, 2023
Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction.
Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot, François Labarthe   +7 more
doaj   +1 more source

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

Orphanet Journal of Rare Diseases, 2021
Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone ...
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier   +6 more
doaj   +1 more source

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

PKU and COVID19: How the pandemic changed metabolic control

Molecular Genetics and Metabolism Reports, 2021
Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management ...
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali   +9 more
doaj   +1 more source

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
doaj   +1 more source