Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III [0.03%]
日本III型黏多糖贮积症患者的自然史、临床症状和认知发育
Joo-Hyun Seo,Wakana Sou,Yasutsugu Chinen et al.
Joo-Hyun Seo et al.
Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterized by severe progressive neurocognitive deterioration. Currently, no definitive treatment for MPS III is available, although novel ther...
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect [0.03%]
乳酸性酸中毒、横纹肌溶解和高氨血症：PDE-ALDH7A1缺陷新病例的不典型表现
Marina Bottino,Monica Boyer,Maija R Steenari et al.
Marina Bottino et al.
Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to pyridoxine. Other ...
Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia [0.03%]
FBXL4相关性线粒体DNA耗竭综合征导致的致死性急性肺炎病例报告
Takato Akiba,Shino Shimada,Shimpei Matsuda et al.
Takato Akiba et al.
The F-box and leucine-rich repeat protein 4 (FBXL4) is a nuclear encoded mitochondrial protein essential for mitochondrial DNA (mtDNA) maintenance. Biallelic variants in FBXL4 cause FBXL4-related mitochondrial DNA depletion syndrome (FBXL4-...
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome [0.03%]
Chanarin-Dorfman综合征成年患者的长期神经肌肉、心脏和肝脏结局
Kinza Noman,Andreas Tridimas,James B Lilleker et al.
Kinza Noman et al.
Chanarin-Dorfman syndrome (CDS) is an ultra-rare autosomal recessive subtype of neutral lipid storage disorder (NLSD); it is characterised by ichthyosis and intracytoplasmic accumulation of lipid droplets containing triglycerides, most comm...
Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute [0.03%]
PKU患者中较高的苯丙氨酸耐受范围导致蛋白质及微量元素摄入不足的风险：富含微量营养素的蛋白替代品的影响
Carmen Rohde,Denise Leonne Hofman,Ira Klawon et al.
Carmen Rohde et al.
Background: Patients with phenylketonuria (PKU) with higher phenylalanine (phe)-tolerance may have inadequate diets due to high-quality protein restriction and reduced intakes of nutrient-fortified phe-free, tyrosine (tyr...
Laura Keehan,Elizabeth Null,Lekha Chilakamarri et al.
Laura Keehan et al.
Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal recessive inborn error of metabolism characterized by variable neonatal onset metabolic acidosis, hyperammonemia, lactic acidosis, and ketonuria. To date, there have been 41 cases...
Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis [0.03%]
ALG3-CDG病例研究：糖链谱型和基因分析相结合的启示
Rebeka Kodríková,Zuzana Pakanová,Maroš Krchňák et al.
Rebeka Kodríková et al.
Congenital disorders of glycosylation (CDG) are a group of rare metabolic disorders caused by the defects in the glycosylation pathways of biomacromolecules leading to altered glycoprofiles in affected individuals. In this case study, we pr...
Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age [0.03%]
黏多糖贮积症Ⅱ型神经病变型1例报告：早期脑室内酶替代治疗和造血细胞移植后5年内的发育结局
Azuma Ikari,Asahito Hama,Torayuki Okuyama
Azuma Ikari
Neuronopathic mucopolysaccharidosis type II (MPS II) is a severe lysosomal storage disorder associated with early-onset developmental regression and a poor prognosis. Although enzyme replacement therapy (ERT) and hematopoietic cell transpla...
Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption [0.03%]
个例报告：降低医用食品摄入量后鸟氨酸改善1型戊二酸血症患儿的血 lys 水平：氨基酸吸收和回吸收的影响
Grace Noh,Jariya Upadia
Grace Noh
Glutaric acidemia type 1 (GA1) is a rare metabolic disorder requiring dietary management with lysine (Lys)-free, tryptophan (Trp)-reduced, and arginine (Arg)-fortified medical formulas. This case report describes three siblings with GA1 who...
Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease [0.03%]
一例墨西哥庞贝病患者的新型同义变异的分子表征
Carmen Alaez-Verson,Carlos Alberto González-Domínguez,Imelda Vergara Sanchez et al.
Carmen Alaez-Verson et al.
Introduction: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-1,4-glucosidase (GAA; EC 3.2.1.20), encoded by the GAA gene, leading to progressive neuromuscular deterior...