• A novel <em>HCFC1</em> variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder
• A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder
• ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease
• An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
• Disorders of Intracellular Cobalamin Metabolism
• Downregulation of megalin, cubilin, ClC-5 and podocin in Fabry nephropathy: potential implications in the decreased effectiveness of enzyme replacement therapy
• Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease
• HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism
• Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression
• Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment
• Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes
• Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
• Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
• Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
• Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
• Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4
• The effect of progressive glomerular disease on megalin-mediated endocytosis in the kidney
• X-linked cerebral adrenoleukodystrophy
• X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid