• <em>SCN3A-</em>Related Neurodevelopmental Disorder
• <em>SCN8A</em> mutation in a child presenting with seizures and developmental delays
• A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases
• A closer look at ARSA activity in a patient with metachromatic leukodystrophy
• A food bolus obstructing the oesophagus in a patient with infantile cerebral palsy
• A randomized controlled trial of burping for the prevention of colic and regurgitation in healthy infants
• A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants
• A strident girl
• Acid Suppression for Gastroesophageal Reflux Disease in Infants
• Alexander Disease
• An exceptional cervicomediastinal mass in a child
• An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty
• Analysis of hypertrophic pyloric stenosis: size does matter
• Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy
• Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years
• Body positioning and medical therapy for infantile gastroesophageal reflux symptoms
• Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
• Bronchiectasis revealing triple A syndrome
• Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
• Characteristics of gastroesophageal reflux disease in children with interstitial lung disease
• Children with encephalopathy : the ear, nose and throat perspective
• Clinical and genetic characteristics of childhood-onset myotonic dystrophy
• Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
• Clinical and videofluoroscopic diagnosis of dysphagia in chronic encephalopathy of childhood
• Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
• Clinical features of epilepsy in children with IRF2BPL gene variation
• Clinical Utility of Bronchoalveolar Lavage Pepsin in Diagnosis of Gastroesophageal Reflux among Wheezy Infants
• Congenital myopathies: Natural history of a large pediatric cohort
• Congenital myopathy associated with a novel mutation in <em>MEGF10</em> gene, myofibrillar alteration and progressive course
• Deep neck space abscesses in children: 15 years of experience in a children's ENT referral unit
• Differential diagnosis difficulties related to infantile hemangioma - case report and literature review
• Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
• Effect of Lactobacillus reuteri NCIMB 30351 drops on symptoms of infantile functional gastrointestinal disorders and gut microbiota in early infants: Results from a randomized, placebo-controlled clinical trial
• Efficacy of miglustat in Niemann-Pick C disease: a single centre experience
• Esomeprazole FDA Approval in Children With GERD: Exposure-Matching and Exposure-Response
• Esophageal atresia and transitional care--step 1: a systematic review and meta-analysis of the literature to define the prevalence of chronic long-term problems
• Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review
• Evaluation of gastro-oesophageal reflux disease in wheezy infants using 24-h oesophageal combined impedance and pH monitoring
• Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study
• Feeding problems in infancy and early childhood: evolutionary concept analysis
• Five probiotic drops a day to keep infantile colic away?
• Gastric Peroral Endoscopic Pyloromyotomy for Infants With Congenital Hypertrophic Pyloric Stenosis
• Gastro-esophageal Reflux Disease Associated Infantile Wheezing; Phenotype Characteristics and Effect of Antireflux Medications
• Gastroesophageal Reflux Disease in a One-Week-Old Infant Presenting With Cyanosis and Respiratory Distress
• Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations
• HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients
• Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years
• Infantile Achalasia Cardia
• Infantile colic, regurgitation, and constipation: an early traumatic insult in the development of functional gastrointestinal disorders in children?
• Infantile gangliosidoses: Mapping a timeline of clinical changes
• Infantile swallowing
• Infantile swallowing: surgical meaning
• KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
• Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
• Lung ultrasound supports clinical evaluation of feeding competence development in preterm neonates
• Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients
• Miglustat in Niemann-Pick disease type C patients: a review
• Neonatal acute lymphocytic leukaemia: an unusual presentation of a rare disease
• Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations
• Neuronal Na+/K+ ATPase is an autoantibody target in paraneoplastic neurologic syndrome
• Niemann-Pick Disease
• Niemann-Pick Disease
• Niemann-Pick disease type C symptomatology: an expert-based clinical description
• Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development
• Novel <em>KDM6A</em> Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
• Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor
• Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan
• Operative Surveillance of Airway Hemangiomas in PHACE Syndrome
• Peroral Endoscopic Myotomy for Infantile Esophageal Achalasia: The First Case Treated With an Ultrathin Endoscope
• Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report
• Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes
• Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
• PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
• Prophylactic use of a probiotic in the prevention of colic, regurgitation, and functional constipation: a randomized clinical trial
• Prophylactic use of probiotics ameliorates infantile colic
• Prophylactic use of probiotics for gastrointestinal disorders in children
• Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions
• Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
• Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report
• Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7
• Respiratory neuropathology in Spinocerebellar ataxia type 7
• Risk of dysphagia and speech and language delay in PHACE syndrome
• Sandifer syndrome in a 30-day-old infant: A case report
• Sandifer Syndrome: A Case Report
• Sandifer's syndrome in a 5-month-old child with suspicion of infantile spasms
• Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases
• Spinocerebellar Ataxia Type 7
• Surgical treatment of infantile achalasia: a case report and literature review
• Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease
• Temporomandibular disorder and comorbid neck pain: facts and hypotheses regarding pain-induced and rehabilitation-induced motor activity changes
• The assessment of the esophageal motility of children with esophageal disorders by the detailed observation of the pH-multichannel intraluminal impedance waveform and baseline impedance: screening test potential
• The association between gastro-oesophageal reflux and migraine in the paediatric population: a multicentre case-control study
• The Clinical and Molecular Spectrum of GM1 Gangliosidosis
• Thickened infant formula: What to know
• Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
• Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia
• Two sisters with a rare cause of infantile colic
• Underlying Causes of Death among Adults with Cerebral Palsy
• Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review
• YouTube as a source of information for children with paroxysmal episodes