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SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/38805916/
Congenital disorders of glycosylation (CDG) are a group of rare, often multi-systemic genetic disorders that result from disturbed protein and lipid glycosylation. SSR4-CDG is an ultra-rare, comparably mild subtype of...
SSR4-CDG is a rare genetic disorder causing developmental delays, intellectual disability, hypotonia, and distinct facial features. It requires genetic diagnosis, with management focusing on symptomatic care, especially for behavioral issues.
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A case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/38077387/
Our findings suggest that anti-GAD65 antibody-positive autoimmune encephalitis patients may concurrently present with other APS. Our unique case presented with multiple endocrine syndromes and represents the first reported occurrence in...
This case report presents the first pediatric instance of anti-GAD65-positive autoimmune encephalitis associated with autoimmune polyendocrine syndrome (APS) type II, highlighting early diagnosis, immunotherapy, and favorable outcomes.
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