Your browser doesn't support javascript.
loading
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Ticci, Chiara; Nesti, Claudia; Rubegni, Anna; Doccini, Stefano; Baldacci, Jacopo; Dal Canto, Flavio; Ragni, Luca; Cordelli, Duccio M; Donati, Maria Alice; Santorelli, Filippo M.
Affiliation
  • Ticci C; Metabolic Disease Unit, Meyer Children's Hospital, Florence, Italy.
  • Nesti C; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
  • Rubegni A; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
  • Doccini S; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
  • Baldacci J; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
  • Dal Canto F; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
  • Ragni L; Paediatric Cardiology and ACHD Unit, S. Orsola Hospital, Bologna, Italy.
  • Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
  • Donati MA; Metabolic Disease Unit, Meyer Children's Hospital, Florence, Italy.
  • Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Clin Genet ; 101(2): 260-264, 2022 02.
Article in En | MEDLINE | ID: mdl-34766628
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Predisposition to Disease / Alleles / Genetic Association Studies / Malate Dehydrogenase / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Humans / Infant Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Italia Country of publication: Dinamarca
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Predisposition to Disease / Alleles / Genetic Association Studies / Malate Dehydrogenase / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Humans / Infant Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Italia Country of publication: Dinamarca