about
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe diseaseRisk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisBrief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes.Genetic causes of macroglossia: diagnostic approach.Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.Enzyme therapy for lysosomal storage disease: principles, practice, and prospects.Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome.Genetic red flags: clues to thinking genetically in primary care practice.Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyAspiration in children with CHARGE syndrome.Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.Enzyme reconstitution/replacement therapy for lysosomal storage diseases.Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.Renal complications of Fabry disease in childrenCharacterization of congenital anomalies in individuals with choanal atresia.An update of childhood genetic disorders.Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.Cost analysis of mandibular distraction versus tracheostomy in neonates with Pierre Robin sequence.Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.Contributions to Racial Disparity in Mortality among Children with Down Syndrome.The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.Primary amoebic meningoencephalitis with Naegleria fowleri: clinical review.Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.Use of the term "Antley-Bixler syndrome": minimizing confusion.A case of minimal change disease in a Fabry patient.DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.Evaluation of growth in patients with isolated cleft lip and/or cleft palate.Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome.Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.Severe micrognathia: indications for EXIT-to-Airway.Variable presentation between a mother and a fetus with Goltz syndrome.Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.A report of a family with an MSH2 mutation and prostate cancer.
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P50
description
hulumtues
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researcher
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հետազոտող
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name
Robert J Hopkin
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Robert J Hopkin
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Robert J. Hopkin
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Robert J. Hopkin
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type
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Robert J Hopkin
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Robert J Hopkin
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Robert J. Hopkin
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Robert J. Hopkin
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prefLabel
Robert J Hopkin
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Robert J Hopkin
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Robert J. Hopkin
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Robert J. Hopkin
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