research Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine
Valproic acid does not change biotinidase enzyme activity in children's blood.
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30-60 / 1000+ resultsresearch Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Valproic Acid is an Effective Anti-Emetic Treatment in Alexander Disease (P10-9.010)
Valproic acid is a more effective treatment for vomiting in Alexander disease than other medications, with few side effects.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Curly Hair: A Rare Side Effect of Sodium Valproate in a Child
Sodium valproate can rarely cause curly hair in children.
research Pendekatan Diagnosis Ensefalomielitis Diseminata Akut
ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Long-Term Treatment with Sodium Valproate
Combining sodium valproate with other epilepsy drugs increases ammonia levels and side effects.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research S2594 Autoimmune Hepatitis Due to Para-Aminobenzoic Acid
Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Relapsing Hepatitis A: An Asymptomatic Recurrence of Elevated Liver Chemistries
Relapsing hepatitis A can cause prolonged abnormal liver tests even without symptoms.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Adverse Reactions to Enemas
Enemas can cause septicemia in elderly men with prostate infections.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Immune-Mediated Diseases of the Central Nervous System
The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.