Results 171 to 180 of about 298,331 (266)

Three-dimensional reconstruction of a biliary system in a bioengineered liver using decellularized scaffold. [PDF]

Sci Rep
Horie H, Fukumitsu K, Hanabata Y, Karasuyama T, Iwaki K, Munekage F, Makino K, Ito T, Tomofuji K, Kojima H, Ogiso S, Uebayashi EY, Uematsu H, Coppo R, Onuma K, Inoue M, Ishii T, Hatano E.   +17 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Polysplenia syndrome complicated by multiple intrahepatic bile duct stones in an adult: a case report. [PDF]

Front Med (Lausanne)
Zhang J, Lu J, Liang H, Chen P, Wang Z, Liu N, Liu J.   +6 more
europepmc   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Vanishing Bile Duct Syndrome as an Uncommon Hepatic Paraneoplastic Syndrome in Hodgkin's Lymphoma. [PDF]

Case Reports Hepatol
Salman N, Petchpailin DS, Seemann A, Modi A, Gupta R, Gautam S.   +5 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

The usefulness of the novel 0.018-inch dedicated uneven double-lumen cannula for endoscopic ultrasound-guided hepaticogastrostomy using a 22-gauge needle. [PDF]

Endoscopy
Takenaka M, Kawamoto H, Fukunaga T, Sakano Y, Kurimoto M, Lee TH, Kudo M.   +6 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Sevelamer inhibits the formation of cholesterol gallstones by modulating bile acid metabolism. [PDF]

Front Pharmacol
Shen S, Ning M, Li M, Qian S, Ye X, Zhuang Q, Wu S, Wan X, Dong Z.   +8 more
europepmc   +1 more source