- <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
- 5-HT(7)R enhances neuroimmune resilience and alleviates meningitis by promoting CCR5 ubiquitination
- A mutational atlas for Parkin proteostasis
- A narrative review of the role of HDAC6 in idiopathic pulmonary fibrosis
- A Novel Interaction Between Aquaporin 1 and Caspase-3 in Pulmonary Arterial Smooth Muscle Cells
- A Survey on the Expression of the Ubiquitin Proteasome System Components HECT- and RBR-E3 Ubiquitin Ligases and E2 Ubiquitin-Conjugating and E1 Ubiquitin-Activating Enzymes during Human Brain Development
- 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)
- Autosomal dominant pseudoxanthoma elasticum
- Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency
- Genetics of hereditary cutaneous diseases associated with digestive tract involvement
- Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?
- Light and electron microscopy of pseudoxanthoma elasticum
- <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