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Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
Background Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs),Expand
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Effect of osteogenesis imperfecta on children and their families
Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder, with features that include increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive orExpand
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Evaluation of parental knowledge after establishing CAH clubs in Vietnam & Indonesia
The incidence of Congenital Adrenal Hyperplasia (CAH) in some Asian countries is far higher than in Australia, (eg 1:6000 as per the Filipino Newborn Screening Program). For many families in low andExpand
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Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation
Insulin (INS) gene mutations that cause permanent neonatal diabetes mellitus change single protein building blocks (amino acids) in the protein sequence. These mutations are believed to disrupt theExpand
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Updated registry of congenital adrenal hyperplasia at the north pediatric referral centre of Vietnam
The National Hospital of Pediatrics (NHP), Hanoi, Vietnam is an 1200 bed tertiary referral centre servicing approximately 30 million people from northern provinces of Vietnam. This audit wasExpand
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Phenotype and genotype of patients with disorder of sex development due to 5α-reductase deficiency
A rare form of the 46,XY disorders of sex development (DSD), 5α-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchidExpand
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The pattern of disorders of sex development in Vietnamese children
Method Patients were examined, diagnosed and treated DSD or ambiguous sex at (NHP) from 31/07/2002 to 31/7/2012. Criteria that suggest DSD include 1. overt genital ambiguity (eg, cloacal exstrophy)Expand
A note on uniqueness boundary of holomorphic mappings
In this paper, we prove Huang et al.'s conjecture stated that if $f$ is a holomorphic function on $\Delta^+:=\{z\in \mathbb C \colon |z| 0\}$ with $\mathcal{C}^\infty$-smooth extension up to $(-1,1)$Expand