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A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
Cakmak Celik, Fatma; Ozlu, Mehmet Mustafa; Ceylaner, Serdar.
Affiliation
  • Cakmak Celik F; Department of Pediatrics, Neonatology Division, Faculty of Medicine, Bahcesehir University, Medistate Hospital, Istanbul, Turkey. Electronic address: clkfatma@yahoo.com.
  • Ozlu MM; Department of Radiology, Medistate Hospital, Istanbul, Turkey.
  • Ceylaner S; Intergen Genetic Centre, Ankara, Turkey.
Clin Neurol Neurosurg ; 202: 106506, 2021 Mar.
Article in En | MEDLINE | ID: mdl-33497949
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Purine-Pyrimidine Metabolism, Inborn Errors / Respiratory Distress Syndrome, Newborn / Autistic Disorder / Developmental Disabilities / Adenylosuccinate Lyase / Epilepsy / Lissencephaly / Agenesis of Corpus Callosum / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Neurol Neurosurg Year: 2021 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Purine-Pyrimidine Metabolism, Inborn Errors / Respiratory Distress Syndrome, Newborn / Autistic Disorder / Developmental Disabilities / Adenylosuccinate Lyase / Epilepsy / Lissencephaly / Agenesis of Corpus Callosum / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Neurol Neurosurg Year: 2021 Document type: Article