• A new method for assessment of fetal lung maturity
• A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
• A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
• Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous <em>PLOD2</em> Mutations
• Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis
• Anaplastic astrocytoma mimicking progressive multifocal leucoencephalopathy: a case report and review of the overlapping syndromes
• Antenatal Testing for Women With Preexisting Medical Conditions Using Only the Ultrasonographic Portion of the Biophysical Profile
• Antibodies to soluble CD4 in HIV-1-infected individuals
• Antibody signatures in patients with histopathologically defined multiple sclerosis patterns
• Benign pancreatic hyperenzymemia (Gullo syndrome), histamine intolerance, and carbohydrate malabsorption
• Bilateral perisylvian syndrome not related to malformations: report of two cases
• Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta
• Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation
• Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
• Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
• Bruck Syndrome: Beyond the Obvious
• Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita
• Butyrylcholinesterase interactions with amylin may protect pancreatic cells in metabolic syndrome
• Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in <em>PLOD2</em> Causing Bruck Syndrome Type 2
• CD8⁺ T cell-mediated endotheliopathy is a targetable mechanism of neuro-inflammation in Susac syndrome
• Characterization of complications associated with open and endoscopic craniosynostosis surgery at a single institution
• Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis
• Clinical Characteristics and Treatment Outcomes of Children with Primary Osteoporosis
• Comparative biochemical studies in organic parkinsonian syndromes and drug induced parkinsonian syndromes
• Concomitant Prevalence of Low Serum Diamine Oxidase Activity and Carbohydrate Malabsorption
• Decrease of lysyl hydroxylase 2 activity causes abnormal collagen molecular phenotypes, defective mineralization and compromised mechanical properties of bone
• Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17
• Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)
• Detecting autonomic response to pain in Rett syndrome
• Difference in early development of presumed monozygotic twins with Rett syndrome
• Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2
• Do induced tachycardias within the scope of electrophysiological studies lead to elevated plasma troponin I levels?
• Drug reaction with eosinophilia and systemic symptoms after daclizumab therapy
• Evaluation of symptoms and symptom combinations in histamine intolerance
• Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
• Fatal PML associated with efalizumab therapy: insights into integrin αLβ2 in JC virus control
• Fine analysis of humoral antibody response to envelope glycoprotein of SIV in infected and vaccinated macaques
• First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease
• FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
• Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone
• FKBP65-dependent peptidyl-prolyl isomerase activity potentiates the lysyl hydroxylase 2-driven collagen cross-link switch
• Food intolerance/malabsorption may occur in rare diseases
• Functional connectivity response to acute pain assessed by fNIRS is associated with BDNF genotype in fibromyalgia: an exploratory study
• Genomic structure and embryonic expression of zebrafish lysyl hydroxylase 1 and lysyl hydroxylase 2
• Helicobacter pylori infection and lactose intolerance increase expiratory hydrogen
• IABP before cardiac surgery: clinical benefit compared to intraoperative implantation
• Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis
• Immune Responses against SARS-CoV-2-Questions and Experiences
• Immunological and clinical consequences of treating a patient with natalizumab
• Impact of the COVID-19 pandemic on cardiovascular mortality and catherization activity during the lockdown in central Germany: an observational study
• Intravenous immunoglobulin in children with Guillain-Barré syndrome
• Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations
• Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants
• Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
• Machine Learning of Bone Marrow Histopathology Identifies Genetic and Clinical Determinants in Patients with MDS
• Menkes' disease: case report
• Minimal Invasive Linea Alba Reconstruction for the Treatment of Umbilical and Epigastric Hernias with Coexisting Rectus Abdominis Diastasis
• Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2
• Modern approach to children with osteogenesis imperfecta
• Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease
• Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin
• Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
• Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum
• Neurofibromatosis 1 associated with spinal muscular atrophy
• New insights on the clinical variability of FKBP10 mutations
• Nimesulide-induced hepatitis and acute liver failure
• Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients
• Novel Mutations in PLOD2 Cause Rare Bruck Syndrome
• Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
• On a depressive syndrome in primary hyperparathyroidism
• On changes in the composition of cerebrospinal fluid in the choreatic syndrome
• Open-label pilot for treatment targeting gut dysbiosis in myalgic encephalomyelitis/chronic fatigue syndrome: neuropsychological symptoms and sex comparisons
• Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)
• Osteogenesis imperfecta with joint contractures: bruck syndrome
• Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages
• Pathology of immune reconstitution inflammatory syndrome in multiple sclerosis with natalizumab-associated progressive multifocal leukoencephalopathy
• Pattern II and pattern III MS are entities distinct from pattern I MS: evidence from cerebrospinal fluid analysis
• Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review
• Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
• Phenotypic Consequences of PLOD2 Mutations in Bruck Syndrome Inform a Collagen Lysyl Hydroxylase Crystal Structure
• Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome
• Plasmapheresis for Management of Antiphospholipid Syndrome in the Neurosurgical Patient
• Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations
• Rapid and sustained remission of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome through treatment with anakinra and corticosteroids
• Renal denervation: current state and future perspectives
• Rett syndrome: retrospective and prospective study of 28 patients
• SARS-CoV-2 infects human brain organoids causing cell death and loss of synapses that can be rescued by treatment with Sofosbuvir
• Serum Diamine Oxidase Values, Indicating Histamine Intolerance, Influence Lactose Tolerance Breath Test Results
• SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants
• Sleep abnormalities in chronic fatigue syndrome/myalgic encephalomyelitis: a review
• Somatic <em>STAT3</em> mutations in Felty syndrome: an implication for a common pathogenesis with large granular lymphocyte leukemia
• Temporary third-degree atrioventricular block in a case of apical ballooning syndrome
• The fourth cryoballoon generation with a shorter tip to facilitate real-time pulmonary vein potential recording: Feasibility and safety results
• The role of short-term multilumen duodenojejunal manometry in patients with intestinal motor dysfunction
• The social background of male to female transsexuals
• Therapy of 2d degree burns with homologous split skin with special reference to HIV transmission
• Towards artificial intelligence-driven pathology assessment for hematological malignancies
• Ultrasound in pituitary tumor surgery
• West syndrome: clinical and electroencephalographic follow up of 70 patients and response to its treatment with adrenocorticotropic hormone, prednisone, vigabatrin, nitrazepam and valproate
• Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study