• A <em>Pex7</em> Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
• A case of Conradi-Hunermann-Happle syndrome treated with topical simvastatin-cholesterol ointment
• A case of Conradi-Hunermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis
• A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate
• A de novo, Novel Frameshift Deletion in Conradi-Hunermann-Happle Syndrome with Ten-year Follow-up from Birth
• A Neonate with Feathery Scales
• A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders
• A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
• A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders
• A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report
• A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
• A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype
• Abnormal sterol-induced cell wall glucan deficiency in yeast is due to impaired glucan synthase transport to the plasma membrane
• An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy
• Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2
• Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata
• Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders
• Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
• Case of Conradi-Hünermann-Happle syndrome due to a nonsense mutation of c.245G&gt;A (p.W82*)
• Case of Conradi-Hunermann-Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)
• Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case
• Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata
• Chondrodisplasia Punctata of Hip Joints on Routine Radiography Provided a Diagnostic Clue of Zellweger Syndrome
• Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up
• Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report
• Chondrodysplasia Punctata with Severe Airway Stenosis
• Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders
• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
• Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata
• Conradi-Hunerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report
• Conradi-Hunermann-Happle syndrome associated with severe hypocalcemia in a newborn
• Conradi-Hunermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea
• Conradi-Hunermann-Happle syndrome with minimal signs
• Conradi-Hunermann-Happle syndrome: Clinical and trichoscopic findings
• Conradi-Hunermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC
• Correspondence Reply to Kitaoka et al
• De novo mutation of emopamil binding protein (<em>EBP</em>) gene in a girl with Conradi-Hünermann-Happle syndrome
• De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hunermann-Happle syndrome
• Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies
• Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
• General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report
• Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata
• Genetics of Inherited Ichthyoses and Related Diseases
• Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <em>PEX3</em> defect: Case report and literature review
• GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata
• Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases
• Human Genetics of Atrial Septal Defect
• Hyperemesis gravidarum and vitamin K deficiency: a systematic review
• Ichthyotic skin lesions of Conradi-Hunermann-Happle syndrome successfully treated with dupilumab
• Increased Proteolytic Activity of <em>Serratia marcescens</em> Clinical Isolate HU1848 Is Associated with Higher <em>eepR</em> Expression
• Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata
• Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment
• Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia
• Macroglossia, Dry Skin, Developmental Delay, and Stippled Epiphysis: A Treatable Condition
• Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation
• Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata
• Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants
• Mixed connective tissue disease in pregnancy: A case series and systematic literature review
• Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease
• Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD)
• Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the <em>GNPAT</em> gene
• Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene
• New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hunermann-Happle Syndrome
• Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus
• Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
• Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice
• Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency
• Peroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions
• Plasmalogens regulate the AKT-ULK1 signaling pathway to control the position of the axon initial segment
• Posterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata: A Case Report
• Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL
• Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in <em>ARSE</em>
• Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE
• Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation
• Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation
• Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders
• Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma
• Refsum Disease
• Refsum Disease
• Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
• Rhizomelic Chondro-Dysplasia Punctate (RCDP)
• Rhizomelic chondrodysplasia punctata morbidity and mortality, an update
• Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition
• Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
• Surgical Treatment of Chondrodysplasia Punctata Tibial-Metacarpal Type Until Skeletal Maturity: A Case Report
• The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?
• The type-2 peroxisomal targeting signal
• Tricky Isomers-The Evolution of Analytical Strategies to Characterize Plasmalogens and Plasmanyl Ether Lipids
• Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B
• Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice
• Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
• Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry
• X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report
• X-linked genodermatoses from diagnosis to tailored therapy
• Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder
• Zellweger Syndrome