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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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Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan
Background: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be very rare in the Chi...
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Article
Lack of Association between ORAI1/CRACM1 Gene Polymorphisms and Kawasaki Disease in the Taiwanese Children
Kawasaki disease (KD) is characterized by systemic vasculitis of an unknown cause. A previous study has indicated that a polymorphism of the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene is involved in the...
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Article
Open AccessLow penetrance of retinoblastoma for p.V654L mutation of the RB1 gene
Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (RB1) mutations. In germline retinoblastoma, mutations in the RB1 gene predispose individuals to increased cancer risks d...
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Article
Open AccessGrowth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus
Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression. We report an 11 and a half-year-old boy with Crouzon syndrome with severe grow...
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Article
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. Th...
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Article
Case of Chronic Lymphocytic Leukemia with Unusual Chromosome Aberrations
Chronic lymphocytic leukemia is one of the most common leukemias in the western world and consists of many chromosome aberrations. We report the case of a 74-year-old male patient with chronic lymphocytic leuk...
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Article
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We have analyzed CYP21 gene sequences in 65 CAH families in T...
