- <em>In vitro</em> analysis of anti-HPA-1a dependent platelet phagocytosis and its inhibition using a new whole blood phagocytosis assay (WHOPPA)
- A Case of Neonatal Alloimmune Thrombocytopenia Following Maternal Pemphigoid Gestationis
- A case of neonatal thrombocytopenia due to maternal Helicobacter pylori-associated immune thrombocytopenia
- A Case of Non-purpuric Neonatal Alloimmune Thrombocytopenia Secondary to ABO Incompatibility
- A rare case of congenital amegakaryocytic thrombocytopenia associated with possible neonatal alloimmune thrombocytopenia and neutropenia by anti-HLA antibodies
Research
- <em>Plasmodium falciparum</em> selectively degrades α-spectrin of infected erythrocytes after invasion
- A genetic screen to uncover mechanisms underlying lipid transfer protein function at membrane contact sites
- A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
- AbetaPP-tau-HAS1 axis trigger HAS1-related nuclear speckles and gene transcription in Alzheimer's disease
- Adeno-associated virus-mediated trastuzumab delivery to the central nervous system for human epidermal growth factor receptor 2+ brain metastasis
- A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome
- A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
- A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
- A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects
- A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
- <em>Abcc6</em> Null Mice-a Model for Mineralization Disorder PXE Shows Vertebral Osteopenia Without Enhanced Intervertebral Disc Calcification With Aging
- A case of angioid streaks that produced choroidal neovascularization after the onset of unilateral acute retinopathy in pseudoxanthoma elasticum
- ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum?
- Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload?
- Angioid Streaks
- ABCC6 as a target in pseudoxanthoma elasticum
- ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
- Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association?
- Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in <em>ENPP1</em> Gene
- Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene