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Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Lee, Yun Jeong; Kim, Soo Yeon; Kim, Man Jin; Kim, Ae Ryoung; Lee, Jong-Mok; Chae, Jong-Hee.
Affiliation
  • Lee YJ; Department of Pediatrics, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Republic of Korea.
  • Kim SY; Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Ho
  • Kim MJ; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.
  • Kim AR; Department of Rehabilitation Medicine, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Republic of Korea.
  • Lee JM; Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Republic of Korea.
  • Chae JH; Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Ho
Neuromuscul Disord ; 31(11): 1194-1198, 2021 11.
Article in En | MEDLINE | ID: mdl-34454814
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Riboflavin / Vitamin B Complex / Muscle Weakness / Multiple Acyl Coenzyme A Dehydrogenase Deficiency Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2021 Document type: Article Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Riboflavin / Vitamin B Complex / Muscle Weakness / Multiple Acyl Coenzyme A Dehydrogenase Deficiency Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2021 Document type: Article Country of publication: United kingdom