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Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004
TLDR
Overall incidence of MPS in Taiwan was consistent with that reported in Western populations, however, in contrast to the higher incidence ofMPS I in mostWestern populations, this study showed a higher incidenceof MPS II in Taiwan.
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004
TLDR
Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that a small but notable percentage of these patients will survive the first year and the possibility of long‐term survival should be included in any discussion to enable families to make the most appropriate decision.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
TLDR
Four new monogenic causes of GAMOS are identified, a link between KEOPS function and human disease is described, and potential pathogenic mechanisms are delineated.
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
TLDR
This case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects, and provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature.
Free Amino Acids in Full-Term and Pre-Term Human Milk and Infant Formula
TLDR
The concentration of FAA is high in human colostral milk and decreases through the transitional and mature milk stages, and is higher in all human milks than in infant formulas.
Polysomnographic characteristics in patients with mucopolysaccharidoses
TLDR
The overnight polysomnography will help to determine the abnormalities of breathing during sleep more precisely and urge the clinicians to take necessary action for patients with severe manifestations.
ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children.
TLDR
Investigating if the single-nucleotide polymorphism (SNP) rs28493229 of the ITPKC gene is associated with susceptibility to KD or with CALs in Taiwanese children found no significant association.
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985–2004
Background: This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan’s
Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome
To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome.
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