Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients [PDF]
, 2014 Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients
Neerja, Gupta +13 more
openaire +2 more sources
Second-order Gauge-invariant Cosmological Perturbation Theory: Current Status [PDF]
, 2010 The current status of the recent developments of the second-order gauge-invariant cosmological perturbation theory is reviewed. To show the essence of this perturbation theory, we concentrate only on the universe filled with a single scalar field ...
Nakamura, Kouji
core +3 more sources
What are the information needs of parents caring for a child with Glutaric aciduria type 1? [PDF]
, 2019 BACKGROUND: Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children.
Hart, Anthony R +3 more
core +1 more source
Glutaryl-CoA dehydrogenase misfolding in glutaric acidemia type 1 [PDF]
, 2023 Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein ...
Barroso, Madalena +8 more
core +1 more source
Second-order Gauge Invariant Cosmological Perturbation Theory: -- Einstein equations in terms of gauge invariant variables -- [PDF]
, 2006 Along the general framework of the gauge invariant perturbation theory developed in the papers [K. Nakamura, Prog. Theor. Phys. {\bf 110} (2003), 723; {\it ibid}, {\bf 113} (2005), 481.], we formulate the second order gauge invariant cosmological ...
Acquaviva +29 more
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Frontiers in Pharmacology, 2022 Background: Acute myocardial infarction (AMI) is a common and life-threatening cardiovascular disease. However, there is a lack of pathology and drug studies on AMI within 20 min.
Aoao Wang +9 more
doaj +1 more source
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
core +1 more source
Practical aspects of therapy for glutaric aciduria type 1
Нервно-мышечные болезни, 2021 Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the ...
E. Yu. Zakharova +15 more
doaj +1 more source
Resolving candidate genes of mouse skeletal muscle QTL via RNA-Seq and expression network analyses [PDF]
, 2012 Peer reviewedPublisher ...
Blizard, David A +6 more
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Genetics and Molecular Biology, 2009 Two syntopic morphotypes of the genus Hypostomus - H. nigromaculatus and H. cf. nigromaculatus (Atlântico Stream, Paraná State) - were compared through the allozyme electrophoresis technique. Twelve enzymatic systems (AAT, ADH, EST, GCDH, G3PDH, GPI, IDH,
Kennya F. Ito +2 more
doaj +1 more source