6 Result(s)

Article

Asymptomatic Isolated Human Glycerol Kinase Deficiency Associated with Splice-Site Mutations and Nonsense-Mediated Decay of Mutant RNA

Isolated glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism that is either symptomatic or asymptomatic. GKD is due to deletions of, or mutations within, the GK gene, and there is no genoty...

Yao-Hua Zhang, Bing-Ling Huang, Ishwarlal Jialal, Hope Northrup… in Pediatric Research (2006)

Article

Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s)

Eric J Vilain, Charmain A Quigley, Javier Aisenberg, Yao-Hua Zhang… in Pediatric Research (1999)

Article

Glycerol Kinase (GK) Point Mutations in Patients with Isolated GK Deficiency: Possible Genotype-Phenotype Relationships

Katrina M Dipple, Yao-Hua Zhang, Bing-Ling Huang, Edward R McCabe in Pediatric Research (1999)

Article

Xp22.1-p21.3 Mental Retardation: Identification of CNS-Expressed Genes in Patients' Deletions • 715

Weiwen Guo, Hamid Kalhor, Yao-Hua Zhang, Bing-Ling Huang… in Pediatric Research (1998)

Article

Glycerol Kinase Missense Mutations Provide Structure-Function But Not Genotype-Phenotype Insights. † 641

Yao-Hua Zhang, Bing-Ling Huang, Weiwen Guo, Linda L. McCabe… in Pediatric Research (1997)

Article

BACTERIAL SPECIES IDENTIFICATION AFTER AMPLIFICATION WITH A UNIVERSAL PRIMER PAIR. † 1059

Kevin M McCabe, Yao-Hua Zhang, Bing-Ling Huang, Su-Ting Li… in Pediatric Research (1996)