Results 41 to 50 of about 316,235 (202)

Neonatal cholestasis: Timely triumph. [PDF]

Clin Liver Dis (Hoboken)
Sharma S, Thomas K, Bertino F, Vittorio J.   +3 more
europepmc   +3 more sources

Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso

Residência Pediátrica, 2022
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare autosomal recessive syndrome, with multisystemic manifestations and mainly characterized by arthrogriposis, renal dysfunction and cholestasis.
Bruna Caseri Marino, Natascha Silva Sandy, Gabriel Hessel, Maria Angela Bellomo Brandão   +3 more
doaj   +1 more source

Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel

The Korean Journal of Gastroenterology, 2021
Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes.
Sun Woo Park, Ji Hong Park, Hye Jeong Moon, Minsoo Shin, Jin Soo Moon, Jae Sung Ko   +5 more
doaj   +1 more source

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Nature Communications, 2016
Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neonatal
Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore   +28 more
doaj   +1 more source

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

Frontiers in Pediatrics, 2020
Introduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its epidemiology, diagnostic accuracy, outcomes, and survival.
Ermelinda Santos Silva, Ermelinda Santos Silva, Ermelinda Santos Silva, Alexandra Almeida, Simão Frutuoso, Esmeralda Martins, Esmeralda Martins, Maria João Valente, Alice Santos-Silva, Ana Isabel Lopes, Ana Isabel Lopes   +10 more
doaj   +1 more source

Prevalence of different etiology in neonatal cholestasis

, 2007
Background: Cholestasis in infants has many causes. Idiopathic neonatal hepatitis and biliary atresia are the most common causes. The clinical presentations of cholestasis in infancy caused by neonatal hepatitis and biliary atresia are very similar ...
Motamed, F, Najafi, M, Khodadad, A, Khatami, GhR, Farahmand, F, Falahi, GhH   +5 more
core   +2 more sources

Increased Risk of Intrahepatic Cholestasis of Pregnancy in Women With Systemic Lupus Erythematosus Exposed to Azathioprine

Arthritis &Rheumatology, EarlyView.
Objective To evaluate the risk of intrahepatic cholestasis of pregnancy (ICP) in azathioprine (AZA)–exposed versus unexposed systemic lupus erythematosus (SLE) pregnancies within the multicenter prospective Lupus in Pregnancy (LEGACY) cohort. Methods LEGACY is conducted at Systemic Lupus International Collaborating Clinics in Canada, South Korea, Peru,
Reem Farhat, Maria del Carmen Zamora‐Medina, Sang‐Cheol Bae, Megan R. W. Barber, Ann E. Clarke, Paul R. Fortin, Zahi Touma, Carl A. Laskin, Isabelle Malhamé, Giada Sebastiani, Christine Peschken, Manuel F. Ugarte‐Gil, Alexandra Legge, Sasha Bernatsky, Évelyne Vinet   +14 more
wiley   +1 more source

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

Frontiers in Pediatrics, 2021
Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis.
Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska   +8 more
doaj   +1 more source

Neonatal cholestasis [PDF]

, 2005
La colestasis neonatal es causada por una bilirrubina conjugada elevada. Sus causas más frecuentes son la atresia de vías biliares, colestasis intrahepática de diferentes etiologías y la hepatitis neonatal idiopática. Una detección temprana de colestasis
Heller Rouassant, Solange
core  

Regionally acquired intestinal failure data suggest an underestimate in national service requirements [PDF]

, 2009
Objectives, setting and patients: With complete case referral for prolonged parenteral nutrition (PN) beyond term equivalent, serving a stable population of 1.25 million people, we describe the long-term outcome and survival of patients referred to an ...
A R Barclay, D Young, GI/Nutrition Research Fund, Child Life and Health, University of Edinburgh (Funder), Gillett, Peter, Munro, Fraser, Livingstone, Jennifer, D C Wilson, F Munro, Paxton, Catherine E, Young, D., , GI/Nutrition Research Fund, Child Life and Health, University of, Paxton, C.E., Hoole, David, Munro, F., Hoole, D., Gillett, P., J Livingstone, G Menon, Barclay, Andrew, Young, D.G., P Gillett, D Hoole, Barclay, A., Wilson, D.C., Wilson, David C, Livingstone, J., C E Paxton, Menon, G., Young, David, Barclay, A.R., Menon, Gopi   +30 more
core   +1 more source