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[Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].

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3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy was

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.

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The aim of the present study was to investigate the clinical, biochemical and genetic mutation characteristics of two cases of late-onset glutaric aciduria type I (GA-I) in Uighur. The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.

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BACKGROUND L-2-hydroxyglutaric aciduria is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. We describe some novel clinical and molecular characteristics found in a boy with L-2-hydroxyglutaric aciduria. METHODS We report an 8-year-old

Comprehensive Qualitative Ingredient Profiling of Chinese Herbal Formula Wu-Zhu-Yu Decoction via a Mass Defect and Fragment Filtering Approach Using High Resolution Mass Spectrometry.

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The Wu-Zhu-Yu decoction is a traditional Chinese medicine formula for the treatment of headache. To reveal its material basis, a rapid and reliable liquid chromatography-high resolution mass spectrometry method was established for comprehensive profiling of the chemical ingredients in the Wu-Zhu-Yu

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy.

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Acute onset of encephalopathy is often due to infections or intoxications, but a high index of suspicion should exist for metabolic or autoimmune causes particularly in recurrent cases. A 6-year-old previously healthy Caucasian male presented with confusion and somnolence. He had several days of

The risk of malnutrition in children with autism spectrum disorder.

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A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. He had vomited intermittently in the two preceding months, without headaches, visual disturbance or early morning symptoms. He had autism spectrum disorder, and restricted eating since aged 2 years, eating

[Clinical and laboratory screening studies on urea cycle defects].

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OBJECTIVE To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features. METHODS In the past 7 years, 26 cases (10.2%) of UCDs were detected from 254 patients with hyperammonemia. The etiological diagnoses

LiverTox: Clinical and Research Information on Drug-Induced Liver Injury

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Valproate or valproic acid is a branched chain organic acid that is used as therapy of epilepsy, bipolar disorders and migraine headaches and is a well known cause of several distinctive forms of acute and chronic liver injury.

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

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Glutaric aciduria type I usually presents with an acute metabolic crisis during infancy. The authors report a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms, and a severe leukoencephalopathy on MRI. The diagnosis was made by urinary organic acid

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

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Purpose: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III

A Review of the Botany, Traditional Use, Phytochemistry, Analytical Methods, Pharmacological Effects, and Toxicity of Angelicae Pubescentis Radix

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Angelicae Pubescentis Radix (AP), as a traditional Chinese medicine (TCM), has been used for thousands of years in China. In this paper, the botany, traditional use, phytochemistry, analytical methods, quality control, pharmacological effects, and toxicity of AP were reviewed. It can provide a

Status, Antimicrobial Mechanism, and Regulation of Natural Preservatives in Livestock Food Systems.

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This review discusses the status, antimicrobial mechanisms, application, and regulation of natural preservatives in livestock food systems. Conventional preservatives are synthetic chemical substances including nitrates/nitrites, sulfites, sodium benzoate, propyl gallate, and potassium sorbate. The

Ipomea hederacea Jacq.: a medicinal herb with promising health benefits.

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Ipomea hederacea Jacq. (kaladana or ivy leaf morning-glory), a member of the family Convolvulaceae, is used primarily for its seeds and recognized for its medicinal properties, especially in Asian countries. This medicinal herb contains various valuable chemical constituents such as ecdysteriods,

A Comprehensive Review on the Phytochemical Constituents and Pharmacological Activities of Pogostemon cablin Benth.: An Aromatic Medicinal Plant of Industrial Importance.

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Pogostemon cablin Benth. (patchouli) is an important herb which possesses many therapeutic properties and is widely used in the fragrance industries. In traditional medicinal practices, it is used to treat colds, headaches, fever, nausea, vomiting, diarrhea, abdominal pain, insect and snake bites.

A review of traditional uses, phytochemistry and pharmacology of Portulaca oleracea L.

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BACKGROUND Portulaca oleracea L. is a widespread medicinal plant that is used not only as an edible plant, but also as a traditional medicine for alleviating a wide spectrum of diseases. It is a well-known plant in the European Traditional Medicine. PA is mentioned by Dioscorides (40-90 CE), with

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