Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous Variant: A Case Report and Literature Review.

Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin biosynthesis. Pathogenic variants in are the most common causes of DRD.

Urgency in Improving Child Health Care Workers' Awareness and Knowledge of ASD: Findings From a Cross-Sectional Study in Southwest China.

To evaluate the levels of awareness and knowledge of ASD among child health care workers in China, we conducted a cross-sectional, questionnaire-based study to assess the participants' awareness and knowledge of ASD. A total of 159 child health care workers from Southwest China participated in the survey and filled out the questionnaire.Descriptive analysis was conducted on the five parts of the questionnaire, including general knowledge, symptomology, screening and diagnosis, and intervention and treatment.