Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients [PDF]
, 2016 Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs.
Rijn, R.R. (Rick) van +5 more
core +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]
, 2017 Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong +34 more
core +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Reducing False-Positive Results in Newborn Screening Using Machine Learning
International Journal of Neonatal Screening, 2020 Newborn screening (NBS) for inborn metabolic disorders is a highly successful public health program that by design is accompanied by false-positive results.
Gang Peng +5 more
doaj +1 more source
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
doaj +1 more source
Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families
Нервно-мышечные болезни, 2021 Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase.
S. V. Mikhailova +32 more
doaj +1 more source
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]
, 2017 Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf +6 more
core +1 more source
Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by d-2-hydroxyglutaric acid in vitro [PDF]
, 1926 l-2-Hydroxyglutaric (LGA) and d-2-hydroxyglutaric (DGA) acids are the characteristic metabolites accumulating in the neurometabolic disorders known as l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria, respectively.
da Silva, Cleide G +8 more
core +1 more source
Frontiers in Neurology, 2020 Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an immune-mediated disease that induces a wide spectrum of symptoms, especially in toddlers.
Daniel Almeida do Valle +10 more
doaj +1 more source