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MeSH term |
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Leigh Disease
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Leigh症候群
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Cytochrome-c Oxidase Deficiency
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シトクロムcオキシダーゼ欠損症
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Encephalomalacia
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脳軟化症
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Brain Diseases, Metabolic
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脳疾患-代謝性
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Pyruvate Dehydrogenase Complex Deficiency Disease
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ピルビン酸デヒドロゲナーゼ複合体欠損症
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Acidosis, Lactic
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アシドーシス-乳酸
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Brain Diseases
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脳疾患
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Psychomotor Disorders
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精神運動障害
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Mitochondrial Diseases
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ミトコンドリア病
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Thiamine Deficiency
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チアミン欠乏症
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Wolff-Parkinson-White Syndrome
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WPW症候群
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Necrosis
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壊死
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Pyruvate Carboxylase Deficiency Disease
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ピルビン酸カルボキシラーゼ欠損症
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Intellectual Disability
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精神発達遅滞
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Alkalosis, Respiratory
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アルカローシス-呼吸性
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Epilepsia Partialis Continua
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てんかん-持続性部分
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Hypocapnia
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低炭酸症
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Spinal Cord Diseases
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脊髄疾患
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Vitamin B Deficiency
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ビタミンB欠乏症
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Wernicke Encephalopathy
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Wernicke脳症
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Encephalomyelitis
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脳脊髄炎
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Dystonia
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ジストニア
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Metabolism, Inborn Errors
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代謝異常-先天性
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Paraparesis, Spastic
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不全対麻痺-痙性
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Hyperventilation
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呼吸亢進
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Hereditary Central Nervous System Demyelinating Diseases
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遺伝性中枢神経系脱髄疾患
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Infant, Newborn, Diseases
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新生児疾患
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Canavan Disease
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Canavan病
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Brain Diseases, Metabolic, Inborn
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脳疾患-代謝性-先天性
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MELAS Syndrome
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MELAS症候群
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Liver Failure
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肝不全
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Ataxia
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運動失調症
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Ophthalmoplegia, Chronic Progressive External
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外眼筋麻痺-慢性進行性
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Fatty Liver
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脂肪肝
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Fanconi Syndrome
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Fanconi症候群
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Mitochondrial Encephalomyopathies
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ミトコンドリア脳筋症
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Sudden Infant Death
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乳幼児突然死症候群
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Chromosome Disorders
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染色体疾患
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Spasms, Infantile
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けいれん-乳児
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Uniparental Disomy
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片親性ダイソミー
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Mitochondrial Myopathies
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ミトコンドリア筋症
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Failure to Thrive
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成長不全
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Basal Ganglia Diseases
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基底核疾患
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Optic Atrophy
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視神経萎縮
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Metabolic Diseases
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代謝性疾患
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Kearns-Sayre Syndrome
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Kearns-Sayre症候群
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Stroke
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脳卒中
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Aneuploidy
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異数性
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Muscle Weakness
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筋力低下
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Acidosis
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アシドーシス
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Respiratory Insufficiency
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呼吸不全
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Neurodegenerative Diseases
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神経変性疾患
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Movement Disorders
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運動障害
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Syndrome
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症候群
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Carbohydrate Metabolism, Inborn Errors
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炭水化物代謝異常-先天性
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Muscle Hypotonia
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筋緊張低下
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Epilepsies, Myoclonic
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てんかん-ミオクローヌス
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Neuromuscular Diseases
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神経筋疾患
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Fetal Death
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胎児死亡
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Demyelinating Diseases
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脱髄疾患
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Cardiomyopathy, Hypertrophic
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心筋症-肥大性
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Chromosome Aberrations
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染色体異常
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Central Nervous System Diseases
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中枢神経系疾患
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Diabetes Mellitus
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糖尿病
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Seizures
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けいれん性発作
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Muscular Diseases
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筋疾患
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Retinitis Pigmentosa
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網膜色素変性症
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Recurrence
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再発
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Chromosome Deletion
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染色体欠失
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