[HTML][HTML] Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature
Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
A 7-year report of spectrum of inborn errors of metabolism on full-term and premature infants in a Chinese neonatal intensive care unit
W Zhang, Y Yang, W Peng, J Chang, Y Mei… - Frontiers in …, 2020 - frontiersin.org
Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units
(NICUs). However, the integrative analysis of the incidence for full-term and premature …
(NICUs). However, the integrative analysis of the incidence for full-term and premature …
[HTML][HTML] Prominent renal Complications associated with MMACHC pathogenic variant c. 80A> G in Chinese children with cobalamin C deficiency
X Liu, H Xiao, Y Yao, S Wang, H Zhang… - Frontiers in …, 2023 - frontiersin.org
Objective: CblC deficiency, the most common cobalamin metabolic abnormality, is caused
by pathogenic variants in the MMACHC gene. The renal complications of this disease have …
by pathogenic variants in the MMACHC gene. The renal complications of this disease have …
Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression
J Yang, L Wang, Y Huang, K Liu, C Lu, N Si… - Frontiers of …, 2020 - Springer
Familial acne inversa (AI) is an autoinflammatory disorder that affects hair follicles and is
caused by loss-of-function mutations in γ-secretase component genes. We and other …
caused by loss-of-function mutations in γ-secretase component genes. We and other …
[HTML][HTML] Case report: membranous nephropathy secondary to cobalamin C disease
Q Wang, Q Wang, Y Gao, C Tang, Z Gao, Z Hu - Frontiers in Medicine, 2022 - frontiersin.org
Background Mutation of MMACHC causes inherited cobalamin C disease with
methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be …
methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be …
[HTML][HTML] Rare cause of coronary artery ectasia in children: a case report of methylmalonic acidemia with hyperhomocysteinemia
T Juan, C Chao-Ying, L Hua-Rong, W Ling - Frontiers in Pediatrics, 2022 - frontiersin.org
Background Methylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by
cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its …
cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its …
Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report
J Xu, A Zhang, F Huang - … and Therapeutic Medicine, 2020 - spandidos-publications.com
The aim of the present report was to describe the clinical presentation, diagnosis, and
treatment of a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a neonate …
treatment of a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a neonate …
Dietary Restriction of Vitamin B12 Induces Hyperhomocysteinemia And Renal Function Impairment in Rat Model.
P AMANI, DI SOERIA-SANTOSO… - International …, 2020 - search.ebscohost.com
Vitamin B12 deficiency is still a global health problem, which mostly caused by lack of intake
and malabsorption. Vitamin B12 deficiency is already known associated with hematological …
and malabsorption. Vitamin B12 deficiency is already known associated with hematological …
CblC Deficiency is the Cause of Persistent Proteinuria in a Young Female Ten Years After the Diagnosis of Atypical Nephropathy: A Case Report
M Yang, Y Xin, Y Du - 2023 - researchsquare.com
Background: Cobalamin C (cblC) deficiency is the most common inborn error of cobalamin
metabolism. It is caused by pathogenic variants in the MMACHC gene with varying clinical …
metabolism. It is caused by pathogenic variants in the MMACHC gene with varying clinical …