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Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders
Acute presentation of severe motor disorders is a diagnostic and management challenge.
We define severe acute motor exacerbations (SAME) as acute/subacute motor symptoms …
We define severe acute motor exacerbations (SAME) as acute/subacute motor symptoms …
Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history …
CY Miyake, SA Ehsan, L Zhang… - American Journal of …, 2023 - Wiley Online Library
Abstract TANGO2‐deficiency disorder (TDD) is an autosomal recessive condition arising
from pathogenic biallelic variants in the TANGO2 gene. TDD is characterized by symptoms …
from pathogenic biallelic variants in the TANGO2 gene. TDD is characterized by symptoms …
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease
JL Restrepo-Vera, P Muñoz-Cabello… - Neuromuscular …, 2023 - Elsevier
TANGO2-related disease is an autosomal recessive multisystem disease associated with
developmental delay and infancy-onset recurrent metabolic crises with early mortality …
developmental delay and infancy-onset recurrent metabolic crises with early mortality …
Identification and characterization of TANGO2 protein and its interaction with metabolites
AE Powers - 2024 - d-scholarship.pitt.edu
Pathogenic variants in the Transport and Golgi Organization 2 Homolog (TANGO2) gene
lead to an autosomal recessive disorder associated with TANGO2 deficiency. The disorder …
lead to an autosomal recessive disorder associated with TANGO2 deficiency. The disorder …
Dystonia
Dystonia is a movement disorder characterized by sustained or intermittent muscle
contractions causing abnormal movements and postures. There are many different forms of …
contractions causing abnormal movements and postures. There are many different forms of …
Clinical Spectrum, Diagnosis, and Management of TANGO2 Deficiency Disorder: A Comprehensive Review
M Dołęga, P Gacka, O Dróżdż, J Gołda, J Mężyk… - Quality in Sport, 2024 - apcz.umk.pl
TANGO2 deficiency disorder is an autosomal recessive disease caused by biallelic
pathogenic variants in the TANGO2 gene. First described in 2016, the disorder is …
pathogenic variants in the TANGO2 gene. First described in 2016, the disorder is …