about
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issuesDiagnostic tests for Niemann-Pick disease type C (NP-C): A critical reviewJuvenile Sandhoff disease--nine new cases and a review of the literatureA systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseasesClinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVABone marrow transplantation in glycogen storage disease type 1b.Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey.The factors affecting lipid profile in adult patients with MucopolysaccharidosisLevels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairmentLipid profile in adult patients with Fabry disease - Ten-year follow upProspective treatment in carnitine-acylcarnitine translocase deficiency.Mortality in patients with morquio syndrome a.Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.Protein substitute dosage in PKU: how much do young patients need?The oral health needs of children, adolescents and young adults affected by a mucopolysaccharide disorderMRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome).Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.Inborn errors of metabolism for the diagnostic radiologist.Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.Design and validation of a metabolic disorder resequencing microarray (BRUM1).How to use acylcarnitine profiles to help diagnose inborn errors of metabolism.Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome).The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).Mortality in patients with Sanfilippo syndrome.The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience.Mucopolysaccharidoses (MPS).Homozygous hypercholesterolaemia and ezetimibe: a case report.
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Chris Hendriksz
@en
Chris Hendriksz
@nl
type
label
Chris Hendriksz
@en
Chris Hendriksz
@nl
altLabel
Christian Johannes Hendriksz
@en
prefLabel
Chris Hendriksz
@en
Chris Hendriksz
@nl
P31
P496
0000-0003-2179-3639