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Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review.
Yoganathan, Sangeetha; Bhasin, Himani; Garg, Divyani; Malik, Prateek; Saini, Arushi Gahlot; Chandran, Mahalakshmi; Korula, Sophy; Arunachal, Gautham; Danda, Sumita; Thomas, Maya; Oommen, Samuel Philip; Sharma, Suvasini.
Afiliação
  • Yoganathan S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
  • Bhasin H; Department of Pediatrics, University College of Medical Sciences, New Delhi, India.
  • Garg D; Department of Neurosciences, Neo Hospital, Noida, India.
  • Malik P; Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India.
  • Saini AG; Department of Pediatrics, Advanced Pediatric Center, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
  • Chandran M; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
  • Korula S; Department of Paediatrics, Christian Medical College, Vellore, Tamil Nadu, India.
  • Arunachal G; Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India.
  • Danda S; Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
  • Thomas M; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
  • Oommen SP; Department of Paediatrics, Christian Medical College, Vellore, Tamil Nadu, India.
  • Sharma S; Department of Pediatrics (Neurology Division), Lady Hardinge Medical College, New Delhi, India. Electronic address: sharma.suvasini@gmail.com.
Pediatr Neurol ; 146: 26-30, 2023 09.
Article em En | MEDLINE | ID: mdl-37413720
ABSTRACT
Hyperhomocysteinemia is a rare neurometabolic syndrome with diverse manifestations in the pediatric age group, thereby posing a diagnostic challenge. Biochemical testing is imperative to guide plan of evaluation, which may include appropriate genetic testing, in inherited disorders. Through this case-based approach, we demonstrate the heterogeneity of clinical presentation, biochemical and genetic evaluation, and treatment strategies that may reverse this condition among children.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiper-Homocisteinemia / Doenças do Sistema Nervoso Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiper-Homocisteinemia / Doenças do Sistema Nervoso Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article