Browse Items (25 total)

BACKGROUND: We investigated the clinical characteristics that represent risk factors for death in pediatric patients with mitochondrial diseases. METHODS: The medical records of mitochondrial disease pediatric patients attended between 2006 and 2015…

Patients with Niemann-Pick type D have been traced to a single Acadian ancestor in Nova Scotia. The objective of this study was to describe the clinical course. A cohort of children with Niemann-Pick type D was identified by chart review. Some…

We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal…

We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid-lipofuscinosis (NCL), observed in the last 10 years at the…

We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed…

Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be…

The clinical presentation of mitochondrial disorders in childhood is highly variable causing difficulties in diagnosis and management. We assessed records of 75 children (48 male, 27 female) with a biochemically and/or molecularly established…

OBJECTIVE: Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem disorders characterized by defective glycosylation of N-glycosylated proteins.…

Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional…

AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the…

BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and…

Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of…

Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC…

To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during…

AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the…

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…
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