- <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 new platelet alloantigen (Efs(2a)) on glycoprotein GPIIIa leading to neonatal alloimmune thrombocytopenia
Research
- A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report
- A novel lncRNA GM47544 modulates triglyceride metabolism by inducing ubiquitination-dependent protein degradation of APOC3
- A single amino acid substitution in the AAA-type ATPase LRD6-6 activates immune responses but decreases grain quality in rice
- A systematic exploration of unexploited genes for oxidative stress in Parkinson's disease
- AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome
- 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
- A case of angioid streaks that produced choroidal neovascularization after the onset of unilateral acute retinopathy in pseudoxanthoma elasticum
- A Case of Pseudoxanthoma Elasticum with juvenile-onset hypertension
- A Plasma Pyrophosphate Cutoff Value for Diagnosing Pseudoxanthoma Elasticum
- A Rare Case of Pseudoxanthoma Elasticum Identified by Ocular Angioid Streaks
- ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum?