Infantile Systemic Hyalinosis: A Familiar Symptom Unveiling an Unusual Disease.

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Multi-System Genetic Architecture of Hypermobile Ehlers-Danlos Syndrome: Integrating Machine Learning with Subject-Level Genomic Analysis.

Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment.

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neonatal-onset multisystem inflammatory disease caused by a de novo NLRP3 gene mutation: a case report and literature review.

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.

Peptidyl-tRNA hydrolase 2 is a negative regulator of peripartum cardiomyopathy with heart failure in female mice.

Hepatitis in the time of pandemics: A comparative bibliometric analysis of early publications on MIS-C, acute hepatitis of unknown aetiology and Mpox.

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.

Information Theory Analysis of CTX Shows Consistent Clinical Presentation.

Updates of spinal muscular atrophy in advanced therapies.

A Case Report of Atypical Presentation of Systemic Lupus Erythematosus in a Young Child.

Isolated Abducens Nerve Palsy in an Adolescent With Confounding Multisystem Serology: A Case Report and Diagnostic Review.

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

Phenotypic variability in cystinosis: Lessons from an atypical case.

A Rare Cause of Pancytopenia in a Young Child: Infantile-Onset Multisystem Autoimmune Disease Type 1.

Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.

Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome.

Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.

Syndromic vascular anomalies: A challenge.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old:  A case report.

[Acid sphingomyelinase deficiency: A review].

The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review.

Developing consensus outcome measures in juvenile systemic sclerosis: a global survey of pediatric rheumatologists and literature review.

Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Cardiogenic Shock Risk Score at Diagnosis of Multisystem Inflammatory Syndrome in Children: A Multicenter Study.

Characteristics of Children Hospitalized for Acute COVID-19 in France From February 2020 to December 2023.

Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

Infantile Dilated Cardiomyopathy in Alström Syndrome.

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.

Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Tissue nonspecific alkaline phosphatase deficiency impairs Purkinje cell development and survival in a mouse model of infantile hypophosphatasia.

Thiamine: An indispensable regulator of paediatric neuro-cardiovascular health and diseases.

Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases.

MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.

Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in the TTR Gene.

Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Case Report: A neonatal case of cryopyrin-associated periodic syndrome with severe funisitis and neonatal asphyxia.

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).

Intractable diarrhea in an infant-autoimmune enteropathy: A case report.

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.

Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

NT-proBNP course during MIS-C post-COVID-19: an observational study.

The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex.

Predicting Antiseizure Medication Treatment in Children with Rare Tuberous Sclerosis Complex-Related Epilepsy Using Deep Learning.

Epidemiological and clinical evolution of multisystem inflammatory syndrome in children throughout the SARS-CoV-2 pandemic in a tertiary Italian children's hospital.

Novel STAT3 variant causing infantile-onset autoimmune disease.

Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.

Thiamine Responsive Acute Infantile Encephalopathy.

A Comprehensive Update on Late-Onset Pompe Disease.

Long term outcomes in children with trichohepatoenteric syndrome.

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption.

Long-term outcomes of offspring from multiple gestations: a two-sample Mendelian randomization study on multi-system diseases using UK Biobank and FinnGen databases.

Early anakinra treatment improves cardiac outcome of multisystem inflammatory syndrome in children, regardless of disease severity.

Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Human Adenovirus Infection Causing Hyperinflammatory Syndrome Mimicking Multisystem Inflammatory Syndrome in Children (MIS-C): A Case Report.

Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report.

Immunomodulatory Therapy for MIS-C.

Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia.

Peripheral nervous system involvement in SARS-CoV-2 infection: a review of the current pediatric literature.

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.

Incidental Hyperferritinemia in Very Young Infants with Mild Symptoms of COVID-19 Disease.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.

Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.

[Diagnosis and management of Kawasaki disease].

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.

A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome.

Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

Infantile Congenital Mesoblastic Nephroma Leading to Multi-Systemic End-Organ Disease.

The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade.

18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.

The retinal phenotype in primary hyperoxaluria type 2 and 3.

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.

[Hospital care of patients with chronic pathology].

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.

SARS-CoV-2 infection showing signs of cerebral sinus vein thrombosis in the infantile period.

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

The mammalian SKIV2L RNA exosome is essential for early B cell development.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

Treatment of primary hyperoxaluria type 1.

HMGB1 in Pediatric COVID-19 Infection and MIS-C: A Pilot Study.

Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study.

The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.

Italian intersociety consensus on management of long covid in children.

Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.

Gene Therapy Developments for Pompe Disease.

Mitochondrial Neurodegeneration.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan.

Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center.

Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3.

Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report.

Educational Setting and SARS-CoV-2 Transmission Among Children With Multisystem Inflammatory Syndrome: A French National Surveillance System.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.

A second case of multisystem inflammatory syndrome associated with SARS-CoV-2 in a liver-transplanted child.

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

Publishing in pandemic times: A bibliometric analysis of early medical publications on Kawasaki-like disease (MIS-C, PIMS-TS) related to SARS-CoV-2.

A novel PTRH2 missense mutation causing IMNEPD: a case report.

Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature.

Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis.

Infantile systemic lupus erythematous presenting as nephrotic syndrome in a 12-month-old boy: a case report.

Free sialic acid storage disorder: Progress and promise.

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy.

Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey.

Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.

A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.

Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.

Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Factors Associated With Severe SARS-CoV-2 Infection.

PTRH2: an adhesion regulated molecular switch at the nexus of life, death, and differentiation.

Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020.

Complex dystonias: an update on diagnosis and care.

Multisystem Inflammatory Syndrome in Children Associated With Severe Acute Respiratory Syndrome Coronavirus-2 in an 8-Week-Old Infant.

Parkinsonism in children: Clinical classification and etiological spectrum.

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Paediatric multisystem inflammatory syndrome associated with COVID-19: filling the gap between myocarditis and Kawasaki?

Diagnostic challenges in metabolic myopathies.

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.

Pompe disease: pathogenesis, molecular genetics and diagnosis.

A systematic cross-sectional survey of multiple sulfatase deficiency.

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease.

Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.

Recognising and understanding cryopyrin-associated periodic syndrome in adults.

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives.

Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Long-term outcome and unmet needs in infantile-onset Pompe disease.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

White matter lesions in treated late onset Pompe disease are not different to matched controls.

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases.

AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice.

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Selective rickets from localized advanced maturation-a case report.

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Mitochondrial disorder mimicking rheumatoid disease.

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).

[Diagnostic criteria and treatment progress of PHACE syndrome].

IL-1β Enhances Wnt Signal by Inhibiting DKK1.

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.

Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study.

[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?].

Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations.

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.

[Cryopyrin-associated periodic syndromes].

A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.

NLRC4 inflammasomopathies.

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Infantile cystinosis: From dialysis to renal transplantation.

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.