Familias GA | retraso en el desarrollo

Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression 2017

metabolic_screening_in_Children_with_neu...

05 abril, 2023 / 0 Comentario

Developmental delay: when to suspect and how to investigate for an inborn error of metabolism 2005

Developmental delay when to suspect and how to 2005...

10 octubre, 2022 / 0 Comentario

Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene 2021

Siblings ...

30 diciembre, 2021 / 0 Comentario

Dyskinesia in a child: a concern for a rare neuro-metabolic disorder 2019

Dyskinesia in a child: a concern for a rare neuro-metabolic disorder Surg. Pak. 2019; 29 (1): 84-86 JCPSP-Journal of the College of Physicians and Surgeons Pakistan Journal Country: Pakistan P-ISSN: 1022-386X E-ISSN: 1681-7168 Indexing Status : In Process Citation: Ayesha Hafeez , Dyskinesia in a child: a concern for a rare neuro-metabolic disorder, J. Coll. Physicians Surg....

02 septiembre, 2021 / 0 Comentario

Aciduria glutárica tipo 1 con microcefalia: disfrazada de parálisis cerebral espástica 2018

J Pediatr Neurosci . 2018 julio-septiembre; 13 (3): 349–351. doi: 10.4103 / JPN.JPN_79_17 PMCID: PMC6144596 PMID: 30271473 Aciduria glutárica tipo 1 con microcefalia: disfrazada de parálisis cerebral espástica Indar K. Sharawaty Lesa Dawman 1 Información del autor Información sobre derechos de autor y licencia Renuncia de responsabilidad Abstract La aciduria glutárica tipo 1 (GA-1) es un trastorno autosómico recesivo causado por la deficiencia...

26 octubre, 2020 / 0 Comentario

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea 2018

Whole-exome Sequencing Helps...

16 septiembre, 2019 / 0 Comentario

retraso en el desarrollo Tag

Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression 2017

Developmental delay: when to suspect and how to investigate for an inborn error of metabolism 2005

Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene 2021

Dyskinesia in a child: a concern for a rare neuro-metabolic disorder 2019

Aciduria glutárica tipo 1 con microcefalia: disfrazada de parálisis cerebral espástica 2018

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea 2018

Treatable inborn errors of metabolism causing intellectual disability a systematic literature review 2011

Clinical approach to the diagnoses of inborn errors of metabolism 2008

Glutaric AciduriaType 1 Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations 2017

Clinical Pearls in Pediatric Neurology 2014