Andrea Gropman,Kosar Khaksari,Puneet Bagga
Andrea Gropman
The Urea cycle disorders (UCDs) represent a group of rare inborn errors of metabolism that have impaired nitrogen handling from the breakdown of protein, with ensuing acute episodic or chronic hyperammonemia and neurotoxicity. Although adva...
Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders [0.03%]
Krista Casazza,Virginia Kimonis,Chester B Whitley et al.
Krista Casazza et al.
The glycoproteinoses represent a mechanistically related group of ultra-rare lysosomal disorders characterized by progressive neurodegeneration, multisystem involvement, and a profound lack of disease-modifying therapies. These nine distinc...
Cia Bishop,Vanessa Nguyen,Tabitha D&#x;Souza et al.
Cia Bishop et al.
Introduction: Children with leukodystrophy experience progressive physical and cognitive decline, which can lead to suffering. Palliative care consultation can help with multimodal symptom management, building trust with ...
Truncated N-glycans destabilize POMT1 and POMT2 but do not limit cellular O-mannosylation in HEK293 cells [0.03%]
截短的N-聚糖使POMT1和POMT2不稳定，但不会限制HEK293细胞的O-甘露糖基化
Daniel Sturm,Christina Hölscher,Ivan Andújar Martínez et al.
Daniel Sturm et al.
Protein O-mannosylation is initiated by the ER-resident enzymes POMT1 and POMT2, both of which carry multiple N-glycans essential for solubility and activity. Although congenital disorders of glycosylation type I (CDG-I) disrupt the early N...
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden [0.03%]
托斯卡纳（意大利）十年以上的新生儿LSD筛查：流行病学、新型变异和假缺陷负荷
Sabrina Malvagia,Marta Daniotti,Rodolfo Tonin et al.
Sabrina Malvagia et al.
Background: Lysosomal storage disorders (LSDs) comprise a heterogeneous group of inherited metabolic diseases that lead to severe, irreversible complications if diagnosis is delayed. Newborn screening (NBS) provides a cru...
Clinical and laboratory outcomes of ketogenic versus glycine-restricted diet in nonketotic hyperglycinemia: A comparative study [0.03%]
生酮饮食与甘氨酸限制饮食治疗非酮症高甘氨酸血症的临床及实验室指标比较研究
Ayşe Ergül Bozacı,İzzet Erdal,Güldeniz Öner et al.
Ayşe Ergül Bozacı et al.
Aim: This study aimed to compare the clinical, biochemical, and nutritional outcomes of classical nonketotic hyperglycinemia (NKH) patients treated with a ketogenic diet (KD) versus a glycine-restricted diet (GRD). ...