16 Result(s)
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Article
Open AccessUnique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central...
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Open AccessGBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skel...
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Open AccessHigher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pom...
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Open AccessLate-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Tetrahydrobiopterin (BH4) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that is one of the major causes of hyperphenylalaninemia in Taiwan.
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Open AccessChanging clinical manifestations of Gaucher disease in Taiwan
Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be class...
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The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants
The prognosis for patients with citrin deficiency is not always benign. This study examined the differences between patients identified early by newborn screening and patients identified later with cholestasis...
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Article
Open AccessSurvival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
Mucopolysaccharidoses (MPSs) are a group of inherited metabolic diseases, which are characterized by the accumulation of glycosaminoglycans, and eventually lead to the progressive damage of various tissues and...
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Open AccessNewborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years. Here we report the first 70,000 newborns screened for Mucopol...
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Article
Open AccessMethylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental di...
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Article
Open AccessGenotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we ...
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Open AccessClinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical hi...
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Article
Open AccessCauses of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate o...
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Article
Open AccessSlow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study
Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of the...
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Open AccessMudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subuni...
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Open AccessDysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the
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Article
Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy
The primary manifestations of Pompe disease are muscle weakness and cardiomyopathy. Although accumulation of glycogen has also been seen in the nervous system in patients, the significance of brain involvement...
