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UnknownLack of significant ganglioside changes in <i>Slc17a5</i> heterozygous mice: Relevance to FSASD and Parkinson's disease.
Not available
S-EPMC11937675 | biostudies-literature
UnknownEarly infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Not available
S-EPMC6296882 | biostudies-literature
UnknownLate diagnosis and atypical brain imaging of Aicardi-Goutieres syndrome: are we failing to diagnose Aicardi-Goutieres syndrome-2?
Not available
S-EPMC5685901 | biostudies-literature
UnknownChanges in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.
Not available
S-EPMC11845233 | biostudies-literature
UnknownInvestigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Not available
S-EPMC12171062 | biostudies-literature
UnknownOculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Not available
S-EPMC9420964 | biostudies-literature
UnknownHermansky-Pudlak syndrome: Mutation update.
Not available
S-EPMC8175076 | biostudies-literature
UnknownClinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Not available
S-EPMC5395203 | biostudies-literature
UnknownGeneration and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).
Not available
S-EPMC12208114 | biostudies-literature
UnknownHermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Not available
S-EPMC6385472 | biostudies-literature
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