Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]
J Neurosurg Case LessonsNomura Y +6 more
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Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients. [PDF]
Invest Ophthalmol Vis SciZaslavsky K +8 more
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Congenital hyperinsulinism due to NEUROD1 gene mutation. [PDF]
Ann Pediatr Endocrinol MetabKim I, Cheon CK.
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Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]
Mass Spectrom (Tokyo)Wada Y.
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Identification of Protein Markers for Chronic Ischemic Heart Disease Through Integrated Analysis of the Human Plasma Proteome and Genome-Wide Association Data. [PDF]
ProteomesRen C +5 more
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Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. [PDF]
Mol Genet MetabBudhraja R +7 more
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Uncommon Factors Leading to Nephrotic Syndrome. [PDF]
BiomedicinesBogdanović L +6 more
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Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing. [PDF]
Int J Mol SciBalcerzyk-Matić A +4 more
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Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria. [PDF]
CureusVarbanova V +5 more
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