Results 111 to 120 of about 5,947 (218)

Inherited metabolic liver diseases in infants and children: an overview

Zdravniški Vestnik, 2013
Inborn errors of metabolism, which affect the liver are a large, continuously increasing group of diseases. Their clinical onset can occur at any age, from intrauterine period presenting as liver failure already at birth to late adulthood.
Ivo Barić
doaj  

Inherited disorders of bilirubin metabolism

, 2005
Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans.
ROSSI, Francesca, Falcone E, Vetrella S, Punzo F, Francese M, De Vita S, PERROTTA, Silverio, Iodice RM   +7 more
core  

Diagnostic Utility of Next-Generation Sequencing for Unconjugated Hyperbilirubinemia in Children. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Kim HJ.
europepmc   +1 more source

A novel heterozygous mutation in ANK1 solves a mystery of a patient with hyperbilirubinemia and splenomegaly. [PDF]

Pak J Med Sci
Shi Y, Ou Y, Wu H.
europepmc   +1 more source

Hereditary hyperbilirubinemia and its molecular diagnosis

World Chinese Journal of Digestology, 2011
Yan Zhou, Sheng-Hua Jie
openaire   +1 more source

Key role of Levitt's carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report. [PDF]

World J Clin Cases
Kang LL, Zhang HD.
europepmc   +1 more source

S1583 Profound Hyperbilirubinemia in Hereditary Spherocytosis With Complicated Gall Stone Disease

American Journal of Gastroenterology, 2021
Rahul Karna, Sushil Kumar Sharma, Rishabh Kothari, Kunal Das, Premashish Kar   +4 more
openaire   +2 more sources

Antioxidative Vitamine und Hyperbilirubinämie bei Neugeborenen

, 2007
Objective: Low antioxidant system may contribute to the severity of neonatal hyperbilirubinemia. The aim of this research was to explore the relationship between plasma vitamin E and C levels and the severity of hyperbilirubinemia in full-term neonates ...
Obediat, AD, Salim, AM, Abdul-Razzak, KK, Nusier, MK   +3 more
core  

Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025). [PDF]

J Clin Transl Hepatol
Zheng S, Xu X, Nan Y, Hou W, Bai J, Tang S, Liang C, Luo L, Wang J, Li X, Zhang M, Deng G, Liu H, Yang Y, Xie W, Ou X, Zhang X, Wei L, Jia J, Duan Z, Inherited Metabolic Liver Disease Collaboration Group, Chinese Society of Hepatology, Chinese Medical Association.   +22 more
europepmc   +1 more source

Comorbidity of Dengue and Hereditary Spherocytosis in an 18-Year-Old Patient: A Case Report. [PDF]

Cureus
Becerra-Carrillo RI, Mendoza-Maldonado C, Rendón-Aguilar H, Torres-Hernández M, Ochoa-Ramírez L.   +4 more
europepmc   +1 more source