[HTML][HTML] Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations
A Rossi, S Basilicata, M Borrelli, CR Ferreira… - Molecular Genetics and …, 2023 - Elsevier
At any age, respiratory manifestations are a major cause of increased morbidity and
mortality of inherited metabolic diseases (IMDs). Type and severity are extremely variable …
mortality of inherited metabolic diseases (IMDs). Type and severity are extremely variable …
[HTML][HTML] The Reciprocal Interplay between Infections and Inherited Metabolic Disorders
A Tummolo, L Melpignano - Microorganisms, 2023 - mdpi.com
Infections represent the main cause of acute metabolic derangements and/or the worsening
of the clinical course of many inherited metabolic disorders (IMDs). The basic molecular …
of the clinical course of many inherited metabolic disorders (IMDs). The basic molecular …
[HTML][HTML] Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases
A Schumann, UT Schultheiss, CR Ferreira… - Molecular Genetics and …, 2023 - Elsevier
Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney
disease are numerous, extending from common disease groups like diabetes and arterial …
disease are numerous, extending from common disease groups like diabetes and arterial …
[HTML][HTML] Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities
Many classical inherited metabolic diseases (IMDs) are associated with significant
hematological complications such as anemia or thrombosis. While these may not be the …
hematological complications such as anemia or thrombosis. While these may not be the …
[HTML][HTML] Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status
LA López-Mejía, M Vela-Amieva, S Guillén-López… - Nutrients, 2024 - mdpi.com
Propionate defects (PDs) mainly include methylmalonic (MMA) and propionic acidemia (PA)
defects. Lifelong PD patients progress from the compensated to the decompensated stages …
defects. Lifelong PD patients progress from the compensated to the decompensated stages …
Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2
S Fan, H Wu, R Wang, Q Chen… - Molecular Genetics & …, 2024 - Wiley Online Library
Background Congenital disorders of glycosylation (CDG) are a type of inborn error of
metabolism (IEM) resulting from defects in glycan synthesis or failed attachment of glycans …
metabolism (IEM) resulting from defects in glycan synthesis or failed attachment of glycans …
遗传代谢性肝病的肝移植治疗.
沈丛欢， 王正昕 - Organ Transplantation/Qi Guan Yi Zhi, 2024 - search.ebscohost.com
遗传代谢性肝病(IMLD) 是一类基因异常导致的肝脏代谢性疾病. IMLD 发病机制复杂,
常见的原因包括特定酶缺陷导致有害代谢底物或产物蓄积以及糖, 脂肪等物质代谢异常导致的 …
常见的原因包括特定酶缺陷导致有害代谢底物或产物蓄积以及糖, 脂肪等物质代谢异常导致的 …