Emmanuelle Zakheim,Sonal Sachdeva,Daniel Moon et al.
Emmanuelle Zakheim et al.
Achondroplasia, the most prevalent skeletal dysplasia, is a genetic disorder caused by activating mutations in the FGFR3 gene impairing endochondral ossification of long bones. Clinical manifestations include disproportionate short stature ...
Characterization of a PRKCE::ETV6 fusion as a potential oncogenic driver in T-cell acute lymphoblastic leukemia [0.03%]
T细胞急性淋巴细胞白血病中的PRKCE::ETV6融合基因的致癌驱动特性分析
Esther L Monsees,Udo Zur Stadt,Julia Strauss et al.
Esther L Monsees et al.
Relationship of neonatal hypothermia and hypoglycemia in late preterm and term born neonates [0.03%]
晚产儿及足月新生儿低体温与低血糖之间的关系研究
Calvin Kurz,Marcia Roeper,Alena Welters et al.
Calvin Kurz et al.
Neonatal hypothermia and hypoglycemia are among the most common clinical disturbances in the immediate postnatal period and contribute to short- and long-term morbidity. While both conditions have been well described individually, particula...
Growth factors, body composition and energy expenditure in late preterm and term infants during the first 4 months of life: a prospective cohort study [0.03%]
一项前瞻性队列研究：初生至第4个月的晚产儿及足月婴儿生长因子、体成分和能量消耗
Niels Rochow,Anna-Lisa V Nguyen,Gerhard Fusch et al.
Niels Rochow et al.
Background: Late preterm infants (34-36 weeks gestation) represent the majority of preterm births and are often assumed to follow similar postnatal growth trajectories as term infants. However, the postnatal hormonal envi...
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt [0.03%]
酸β-葡萄糖苷酶（GBA1）基因突变型和Gaucher病患者的临床表型：来自埃及上部多中心回顾性队列研究的七种新突变型
Mervat A M Youssef,Solaf M Elsayed,Khalid I Elsayh et al.
Mervat A M Youssef et al.
Background: This study aimed to identify GBA1 variants in Egyptian Gaucher disease (GD) patients residing in a region with high consanguinity and to correlate these genotypes with their clinical phenotypes. ...
The German Center for Child and Adolescent Health - A new structure for translational research in pediatrics shaping the health of children today and future generations [0.03%]
德国儿童与青少年健康中心——一种新的儿科转化研究结构，塑造当今及未来世代的儿童健康状况
Klaus-Michael Debatin,Jutta Gärtner,Christoph Klein et al.
Klaus-Michael Debatin et al.
The new German Center for Child and Adolescent Health (DZKJ) founded as part of the German Centers for Health Research provides an unprecedented and unique opportunity for internationally outstanding research that contributes to the health ...
Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt [0.03%]
酸性鞘磷脂酶缺乏患儿的酶替代治疗效果分析——埃及上级行政区单中心经验报告
Mervat A M Youssef,Esraa Hefzy Shaker,Nahed A M Saleh
Mervat A M Youssef
Background: Thrombocytopenia is the most common hematologic manifestation of acid sphingomyelinase deficiency (ASMD). The introduction of enzyme replacement therapy (ERT) represents significant progress in the treatment l...
Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism [0.03%]
PDGFRB嵌合体所致婴儿肌纤维母细胞瘤和皮肤毛细血管畸形
Luise Pudig,Silke Lassmann,Sebastian Jacob et al.
Luise Pudig et al.
This report describes the case of a 25-year-old female patient with multicentric infantile myofibromatosis since early infancy, superficial capillary malformations and congenital hypoplasia of the third and fourth finger of her right hand. ...
R Falsaperla,M A N Saporito,B Scalia
R Falsaperla
A systematic review of long-term cardiotoxic effects of treatment in survivors of childhood acute lymphoblastic leukemia [0.03%]
儿童急性淋巴细胞白血病生存者长期心脏毒性影响的系统性回顾
Paige Johnson,Ellie Whitney,Coleton Evans et al.
Paige Johnson et al.
As progress in medical interventions for childhood cancer advances, the number of survivors of childhood acute lymphoblastic leukemia (ALL) is rising. Presently, the overall survival rate exceeds 90% over a five-year period. With this upwar...