Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases [0.03%]
一种筛查工具可提高内科和儿科医生对遗传性代谢病患者运动障碍的认识
Ellen M Hulshof,Hugo P Lantinga,Gonnie Alkemade et al.
Ellen M Hulshof et al.
Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool impro...
Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy [0.03%]
丙酸血症：脑灰质病与皮层下白质营养不良相遇
Hannah Fels-Palesandro,Friederike Hörster,Dorothea Haas et al.
Hannah Fels-Palesandro et al.
Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31-33.2 years) were systematically anal...
Hendrik Vogt,George E Kostakis,Rupert Purchase et al.
Hendrik Vogt et al.
Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end-stage liver disease and certain genetic disorders. The latter include hypermanganesaem...
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects [0.03%]
氮清除剂：历史、临床考量及未来前景
Sven Klassa,Johannes Häberle
Sven Klassa
Nitrogen scavengers play a critical role in treating acute and chronic hyperammonemia, especially in urea cycle disorders (UCDs), where impaired ammonia detoxification leads to toxic nitrogen accumulation. These agents complement low-protei...
An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy [0.03%]
X染色体连锁肾上腺脑白质营养不良的基于弥散张量成像的定量磁共振影像的自动分析工具
Eda G Kabak,Fenna van Dodewaard,Stefan D Roosendaal et al.
Eda G Kabak et al.
X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 pathogenic variants, leading to accumulation of very long-chain fatty acids (VLCFAs). Phenotypes include cerebral ALD (CALD) and adrenomyeloneuropathy (AMN). We assessed if quantitati...
Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target [0.03%]
甲基丙二酸尿和丙酸尿症中的TGF-β介导的纤维化重塑驱动慢性肾脏疾病：新的治疗靶点的鉴定
Karina A Zeyer,Stefan Tholen,Oliver Schilling et al.
Karina A Zeyer et al.
Propionic aciduria (PA-uria) and methylmalonic aciduria (MMA-uria) are caused by defects in propionate catabolism. While chronic kidney disease (CKD) is a well-established complication in MMA-uria, renal involvement in PA-uria has only come...
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care [0.03%]
欧洲儿童和成人遗传性代谢疾病的姑息治疗：一种被忽视的支持疗法和护理服务
Anja Lee,Yngve Thomas Bliksrud,Michela Onali et al.
Anja Lee et al.
Palliative care should be an integral part of follow-up for patients with life-limiting/life-threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to...
Thomas Opladen,Ulrike Mütze,Florian Gleich et al.
Thomas Opladen et al.
Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative thera...
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female [0.03%]
由剪接缺陷引起的ATP6AP2相关疾病：异常糖基化及首例女性患者病例报告
Alexandre Raynor,Jean-Madeleine de Sainte-Agathe,Merel A Post et al.
Alexandre Raynor et al.
ATP6AP2 splicing variants cause syndromic X-linked intellectual disability Hedera type (XPDS; OMIM#300423) and X-linked parkinsonism with spasticity (MRXSH; OMIM#300911). Alternatively, ATP6AP2 missense variants lead to hepatopathy, immunol...
Jennifer Hanson,Penelope E Bonnen
Jennifer Hanson
Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile-onset chronic diarrhea, juvenile-onset bilateral cataracts, with development o...