Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia [0.03%]
双等位基因MIPEP变异与全球发育迟缓、婴儿期痉挛性癫痫发作综合征和低张力的功能表征
Benedetta Ruzzenente,Pierre-Hadrien Becker,Elissa Afram et al.
Benedetta Ruzzenente et al.
The mitochondrial intermediate peptidase (MIP) catalyzes the post-import removal of an N-terminal octapeptide from a subset of nuclear-encoded mitochondrial proteins. While the mechanistic role of this processing remains unclear, biallelic ...
OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic [0.03%]
OCA2常见变异NM_000275.3:c.574-19A>G影响剪接且具有致病性
Modibo Diallo,Alicia Defay-Stinat,Claudio Plaisant et al.
Modibo Diallo et al.
Albinism is characterized by generalized hypopigmentation and ocular features resulting from impaired melanin biosynthesis. Most known pathogenic variants are rare (MAF < 0.001) and found in coding regions. The role of non-coding variants, ...
Management of pregnancy and outcomes in a woman with mannose-6-phosphate isomerase deficiency (MPI-CDG) [0.03%]
糖基化障碍患者妊娠管理及结局的一例报告
Jia Hui Megan Loh,May Oo Khin,John Bassett et al.
Jia Hui Megan Loh et al.
Congenital Disorder of Glycosylation type Ib (MPI-CDG) is a rare autosomal recessive metabolic disorder caused by deficiency of mannose-6-phosphate isomerase, resulting in impaired N-glycosylation. Unlike other CDG subtypes, MPI-CDG is not ...
Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudy [0.03%]
Arimoclomol治疗Niemann-Pick病型C患儿的疗效与安全性：开放标签儿科亚组的II/III期临床试验结果
Eugen Mengel,Laila Arash-Kaps,Stephanie Grunewald et al.
Eugen Mengel et al.
Background: Arimoclomol has been approved in the US for the treatment of Niemann-Pick disease type C (NPC) in patients aged ≥2 years, in combination with miglustat. This multicenter, open-label substudy of the phase 2/3 ...
Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center [0.03%]
关于酸性鞘磷脂酶缺乏症的表型、生化及分子异质性：来自单中心47例伊拉克患者的报道
Rabab Farhan,Mays Al-Tai,Ikhlas Ali Ahmed et al.
Rabab Farhan et al.
Objectives: Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM...
Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing [0.03%]
靶向基因组测序在局灶节段性肾小球硬化中的COL4A3、COL4A4、JAG1和NPHS2基因的致病突变检测及意义分析
Lava I Ahmed,Dlnya A Mohammed,Dana Ahmed Sharif
Lava I Ahmed
Background: Monogenic causes of focal segmental glomerulosclerosis (FSGS) are increasingly recognized, but data from highly consanguineous Middle Eastern populations remain limited. This study explored the diagnostic yiel...
Newborn screening for Fabry disease in Japan: an additional 3-year report [0.03%]
日本新生儿法布雷病筛查的后续三年报告
Takaaki Sawada,Jun Kido,Keishin Sugawara et al.
Takaaki Sawada et al.
Newborn screening (NBS) for Fabry disease (FD) is highly effective at detecting FD prior to symptom onset. This initiative is currently being implemented worldwide. We previously reported results for 599,711 newborns from the first large-sc...
Examining the role of social workers within clinical metabolic genetics care [0.03%]
探究社会工作者在临床代谢遗传学护理中的作用
Soo Shim,Diana Cory,Gailon Wixson et al.
Soo Shim et al.
Optimal care for individuals with inborn errors of metabolism (IEMs) requires a well-integrated multidisciplinary care team in which each member contributes specialized expertise to address the complex medical, psychosocial, and logistical ...
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria [0.03%]
变体迟发性皮肤卟啉病的同型合子病例2例误诊为原发性,protoHEME氧化酶缺陷症
Chenqing Wang,Narmene Bensaber,Lina Rebeiz et al.
Chenqing Wang et al.
Homozygous variegate porphyria (HVP) is an ultra-rare porphyria caused by biallelic pathogenic variants in PPOX. It typically presents with early childhood onset of cutaneous photosensitivity, including blistering, skin fragility, scarring,...
A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics [0.03%]
一项关于伏格列珂酶α在戈谢病Ⅰ型中国患者中安全性和有效性的53周开放性Ⅲb期研究及药代动力学研究
Lihui Zhang,Xue-Qun Luo,Yongjun Fang et al.
Lihui Zhang et al.
Background: Velaglucerase alfa is approved in China for treating type 1 Gaucher disease (GD1), but data on its use in Chinese pediatric and adult patients are limited. This study evaluated the safety, efficacy, and pharma...