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B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome
Umbilical cord blood is the preferred donor cell source for children with Inherited Metabolic disorders undergoing Hematopoietic Cell Transplant...
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Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
PurposeTo evaluate apparent pituitary gland enlargement in patients with Sanfilippo syndrome observed at our institution.
MethodsTwelve patients...
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Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty
BackgroundHurler syndrome-associated keratopathy is an exceedingly rare corneal disorder that requires corneal transplantation in advanced stages....
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Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)
ObjectiveThoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal...
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Audiological and Speech and Language Characteristics of a Case with Hunter’s Syndrome
Hearing loss is a common manifestation of Hunter’s syndrome, with reported rates ranging from 67.3 to 94%. The aim is to highlight the audiological...
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A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)
Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS IV), is a subgroup of mucopolysaccharidosis. It is...
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Oromandibular Limb Hypogenesis Syndrome Type IVB with Hypoglossia and Intraoral Band: A Case Report of a Rare Entity
The group of anomalies that affect the tongue, maxilla, and mandible—with or without limb anomalies—comes under the umbrella of the oromandibular...
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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)
BackgroundMucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and...
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Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature
BackgroundCantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and...
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Hurler–Scheie syndrome in Niger: a case series
BackgroundHurler–Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the...
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Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes...
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Pediatric cervical spine instability: evolving concepts
The pediatric cervical spine is structurally and biomechanically unique in comparison to adults. Guidelines to assess for cervical spine instability...
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Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
ObjectivesMucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder characterized by severe multi-systemic organ manifestations...
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Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies
IntroductionMucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of...
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Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid sco** review of available tools and domains
BackgroundLysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders, consisting of over 70 diseases that are characterised...
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A case of Myhre syndrome mimicking juvenile scleroderma
BackgroundMyhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in...
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Sekundäre obstruktive Schlafapnoe
Obstructive sleep apnea (OSA) can occur in the setting of underlying disorders, particularly inherited pediatric syndromes (e.g., Down syndrome,...
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Recommendations for Assessing and Managing Sleep Problems in Children with Neurodevelopmental Conditions
Purpose of ReviewThis review draws upon the authors’ practical experience of assessing sleep in children with neurodevelopmental conditions alongside...
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An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population
The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of...