Results 71 to 80 of about 36,711 (394)
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe +19 more
wiley +1 more source
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj
Leukotriene C4-Synthesis Deficiency
Pediatric Neurology Briefs, 1998 A leukotriene C4-synthesis deficiency, a new inborn error of eicosanoid metabolism characterized by hypotonia, microcephaly, failure to thrive, and retarded development, is described in an infant who died aged 6 months after a rapidly progressive course ...
J Gordon Millichap
doaj +1 more source
INBORN ERRORS OF METABOLISM AND METABOLIC WORK-UP IN AUTISM SPECTRUM DISORDERS
Slovenska pediatrija, 2021 Autism spectrum disorders are complex developmental dis-orders characterised by disturbances in social interactions, verbal and non-verbal communication and imagination.
Anja Krivec Penič +3 more
doaj +1 more source
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]
, 2017 Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
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Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Sjögren-Larsson syndrome: A study of clinical symptoms in six children
Indian Dermatology Online Journal, 2014 Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas +2 more
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Journal of Pediatric Critical Care, 2020 The metabolic crisis due to inborn error of metabolism can present as an isolated entity or along with the underlying sepsis at any age in children. Here, we present 14 months old boy born of third-degree consanguinity, apparently healthy in the past ...
Ramaning Loni +4 more
doaj +1 more source
Transient Hyperammonemia of the Newborn: A Case Study [PDF]
Iranian Journal of Neonatology, 2018 Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the degree
Amir Kamal Hardani, Majid Aminzadeh
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