Detlef Böckenhauer,Arend Bökenkamp,Matti Nuutinen et al.
Detlef Böckenhauer et al.
Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the O...
Prenatal testing: A method for early detection of genetic disorders among fetuses in Thailand, a data between the year 1990 and 2010 [0.03%]
产前检验：一种在泰国早期检测胎儿遗传疾病的手段（1990年—2010年的数据）
Viroj Wiwanitkit
Viroj Wiwanitkit
Prenatal screening is an effective way to prevent genetic disease in pediatric populations. The prenatal amniocentesis and chromosome study is a widely used screening test. Here, the author reports the data on this screening from Thailand a...
Beyond dissemination: A knowledge translation model to drive change in pediatric genetics [0.03%]
超越传播：驱动儿科遗传学变革的知识转化模型
Cheryl Greenberg,Kelly McClellan,Denise Avard
Cheryl Greenberg
There are mounting expectations that health care will be rapidly transformed by developments in genetics. While genetic technologies bring hope for effective diagnosis and treatment of a wide range of medical conditions, challenges have als...
Nomy Levin-Iaina,Dganit Dinour
Nomy Levin-Iaina
Anne M Slavotinek
Anne M Slavotinek
Yusuf Cem Kaplan
Yusuf Cem Kaplan
Sarah L Nickerson,Shanti Balasubramaniam,Philippa A Dryland et al.
Sarah L Nickerson et al.
Nonketotic hyperglycinemia, also known as glycine encephalopathy (OMIM #605899), is an autosomal recessive disorder of glycine metabolism resulting from a defect in the glycine cleavage system. We report two novel mutations of the glycine d...
An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels [0.03%]
儿童骨质疏松症与染色体4:20的不平衡重组及Caspase-3水平降低有关
Esther Kinning,Martin McMillan,Sheila Shepherd et al.
Esther Kinning et al.
The purpose of this study was to investigate the association of a chromosome 4:20 imbalance with osteoporosis in three related children. Bone biochemistry, bone turnover markers, and dual-energy X-ray absorptiometry (DXA) scanning were perf...
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets [0.03%]
范科尼-毕克尔综合征两名以低磷血症性佝偻病为主要表现的巴基斯坦患者
Bushra Afroze,Margaret Chen
Bushra Afroze
Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose. We report the first two children with Fan...
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins [0.03%]
双胞胎Shwachman-Diamond综合征的胸部发育不全是出生时的表现特征
Letizia Capasso,Angela Carla Borrelli,Julia Cerullo et al.
Letizia Capasso et al.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly...