Results 181 to 190 of about 4,483 (224)
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Glutaric Aciduria Type 1 and Nonaccidental Head Injury
PEDIATRICS, 2002To the Editor.— We read the case report of subdural hemorrhage in an infant with glutaric aciduria type 1 (GA1) by Hartley et al1 with intense interest and wish to make a few pertinent observations about the biomechanics of the infant head. The gross pathology of GA1 is pleomorphic: infant patients are commonly macrocephalic.
Joseph H. Piatt, David Frim
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Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria
BMJ Case ReportsA female infant presented with recurrent generalised tonic-clonic seizures, persistent upward gaze and a prolonged postictal phase. Clinical examination revealed macrocephaly and global developmental delay. Laboratory investigations demonstrated profound
Barath Gr +3 more
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Dietary practices in glutaric aciduria type 1 over 16 years
Journal of Human Nutrition and Dietetics, 2012How to cite this article Gokmen‐Ozel H., MacDonald A., Daly A., Ashmore C., Preece M.A., Hendriksz C., Vijay S. & Chakrapani A. (2012) Dietary practices in glutaric aciduria type 1 over 16 years. J Hum Nutr Diet.AbstractBackground: In glutaric aciduria type 1 (GA1), dietary treatment with emergency management (EM) is essential to ...
H, Gokmen-Ozel +7 more
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Anesthetic management in two siblings with glutaric aciduria type 1
Pediatric Anesthesia, 2005SummaryGlutaric aciduria type 1 (GA‐1) is an inborn error of metabolism that results from a deficiency of glutaryl‐CoA dehydrogenase. This disorder mainly manifests in early childhood and most patients with this condition develop a dystonic‐dyskinetic syndrome.
Joaquín, Hernández-Palazón +3 more
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Ocular findings in glutaric aciduria type 1.
Journal of pediatric ophthalmology and strabismus, 2001To determine the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1).Fifteen children with GA1 have been studied in the Republic of Ireland. A retrospective review of the records of the 6 children who died during their illness and prospective clinical examination of 9 survivors were performed.Seven of the 15 children ...
N A, Kafil-Hussain +5 more
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Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
Indian Journal of Pediatrics, 2022Vykuntaraju K. Gowda +3 more
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An overview of real‐world data sources for oncology and considerations for research
Ca-A Cancer Journal for Clinicians, 2022Lynne Penberthy +2 more
exaly
Health insurance status and cancer stage at diagnosis and survival in the United States
Ca-A Cancer Journal for Clinicians, 2022Jingxuan Zhao +2 more
exaly