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Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta, Neerja; Tewari, Vishal Vishnu; Kumar, Manoj; Langeh, Nitika; Gupta, Aditi; Mishra, Pallavi; Kaur, Punit; Ramprasad, Vedam; Murugan, Sakthivel; Kumar, Reema; Jana, Manisha; Kabra, Madhulika.
Affiliation
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. neerja17aiims@gmail.com.
  • Tewari VV; Department of Pediatrics, Army Hospital (Referral & Research), New Delhi, India.
  • Kumar M; Department of Biophysics, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Langeh N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Gupta A; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Mishra P; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Kaur P; Department of Biophysics, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Ramprasad V; Department of Radiology, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Murugan S; Department of Radiology, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Kumar R; Department of Pediatrics, Army Hospital (Referral & Research), New Delhi, India.
  • Jana M; Department of Radiology, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Metab Brain Dis ; 32(6): 1889-1900, 2017 12.
Article in En | MEDLINE | ID: mdl-28776279
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate-Ammonia Ligase / Developmental Disabilities / Epilepsy / Microcephaly / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2017 Document type: Article Affiliation country: India Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate-Ammonia Ligase / Developmental Disabilities / Epilepsy / Microcephaly / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2017 Document type: Article Affiliation country: India Country of publication: United States