منابع مشابه
Hyperammonemia with citrullinemia.
Two cases of hyperammonemia with elevated citrulline are reported, one resulting from a deficiency of pyruvate carboxylase and the other from a partial deficiency of argininosuccinate synthetase. Diagnosis was based on clinical, biochemical and amino acid profiles. The utility of amino acid determinations in hyperammonemia suspected to underlie an inborn error of metabolism is emphasized.
متن کاملA neonate with facial asymmetry.
Department of Neonatology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Department of Paediatrics, All India Institute of Medical Sciences (AIIMS), Bhubaneshwar, Odisha, India Department of Pediatric Surgery, All India Institute of Medical Sciences (AIIMS), New Delhi, India Department of Community Medicine, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Scie...
متن کاملA Neonate with CLOVES Syndrome
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the a...
متن کاملHyperammonemia is associated with generalized convulsion.
PURPOSE The possibility that hyperammonemia may be associated with generalized convulsion (GC) was retrospectively investigated. METHODS Subjects comprised 17 patients with GC who were transported to our department and underwent analysis of serum biochemistry, including ammonia, since October 2004. RESULTS Causes of convulsion included intracranial lesions (n=8), endocrine diseases (n=2), e...
متن کاملHyperammonemia Associated with Valproic Acid Concentrations
Valproic acid, a branched short-chain fatty acid, has numerous action mechanisms which turn it into a broad spectrum anticonvulsant drug and make its use possible in some other pathologies such as bipolar disorder. It is extensively metabolized in liver, representing β -oxidation in the mitochondria one of its main metabolic route (40%). Carnitine is responsible for its entry into the mitochond...
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ژورنال
عنوان ژورنال: Laboratory Medicine
سال: 2005
ISSN: 0007-5027
DOI: 10.1309/1mhj-uvcb-udxv-vrgc