Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.

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作者： Bushra,Afroze ^[1] ; Saadet,Mercimek-Andrews ^[2]

作者单位： Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada. ^[1] Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan. ^[2] Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. ^[3] Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. ^[4]

关键词 Global developmental delay Hypomyelination Microcephaly PYCR2 Pyrroline-5-carboxylate reductase 2 deficiency Seizures

主题词脑(Brain);脑疾病(Brain Diseases);儿童, 学龄前(Child, Preschool);近亲(Consanguinity);发育障碍(Developmental Disabilities);脑电描记术(Electroencephalography);长势不能(Failure to Thrive);女(雌)性(Female);遗传性中枢神经系统脱髓鞘疾病(Hereditary Central Nervous System Demyelinating Diseases);人类(Humans);磁共振成像(Magnetic Resonance Imaging);小头畸形(Microcephaly);肌张力过低(Muscle Hypotonia);吡咯啉羧酸还原酶类(Pyrroline Carboxylate Reductases);发作(Seizures)

DOI 10.1017/cjn.2020.5

PMID 31918782

发布时间 2021-06-07

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The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

2020年47卷2期

280-282页

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Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

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The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

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Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

相似文献

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

相关期刊

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