0000000000859161

AUTHOR

Klane K. White

showing 2 related works from this author

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

2012

Cervical cord compression is a sequela of mucopolysaccharidosis VI, a rare lysosomal storage disorder, and has devastating consequences. An international panel of orthopedic surgeons, neurosurgeons, anesthesiologists, neuroradiologists, metabolic pediatricians, and geneticists pooled their clinical expertise to codify recommendations for diagnosing, monitoring, and managing cervical cord compression; for surgical intervention criteria; and for best airway management practices during imaging or anesthesia. The recommendations offer ideal best practices but also attempt to recognize the worldwide spectrum of resource availability. Functional assessments and clinical neurological examinations …

medicine.medical_specialtyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentConsensus Development Conferences as TopicMucopolysaccharidosis type VIBiochemistryMyelopathyEndocrinologySpinal cord compressionGeneticsMedicineHumansIntensive care medicineMolecular BiologyMucopolysaccharidosis VIbusiness.industryStandard treatmentSequelaCervical cord compressionEnzyme replacement therapymedicine.diseaseSurgeryPractice Guidelines as TopicCervical VertebraeAirway managementbusinessSpinal Cord CompressionMolecular genetics and metabolism
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Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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