Výsledky vyhledávání - "Stanley P. Moroz"

Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase

Autor: Thomas M. Rossi, Beat Hadorn, Stanley P. Moroz, James C. Haworth

Publikováno v: American Journal of Gastroenterology. 96:2251-2254

We report on a 40-yr-old man with both primary enteropeptidase deficiency and celiac disease. He suffered from severe intestinal malabsorption and growth failure as a child. Enteropeptidase deficiency was found and pancreatic enzyme replacement thera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de48a8445e520c603684d3695ac51f8
https://doi.org/10.1111/j.1572-0241.2001.03970.x

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Primary sclerosing cholangitis in 32 children: Clinical, laboratory, and radiographic features, with survival analysis

Autor: Peter Chait, Lori L. Davis, M. Wilschanski, Laurence M. Blendis, Judy Wade, Eve A. Roberts, Stanley P. Moroz, L. J. Scully, Anne M. Griffiths, Mary Corey, Patrick St. Louis

Publikováno v: Hepatology. 22:1415-1422

The clinical presentation and outcome of 32 children with primary sclerosing cholangitis (PSC) are reviewed, the largest North American series. The majority of patients were diagnosed in their second decade (median age: 13 years). Four children prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6de2b9b07123ca255a148ebbbc6a353b
https://doi.org/10.1002/hep.1840220513

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Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family

Autor: James C. Haworth, France Demaugre, Frances A. Booth, Louise A. Dilling, Stanley P. Moroz, Shashikant S. Seshia, Lorne E. Seargeant, Paul M. Coates

Publikováno v: The Journal of Pediatrics. 121:553-557

We describe hepatic carnitine palmitoyltransferase (CPT I) deficiency in three children (a brother and sister and their second cousin) from an extended inbred Hutterite kindred. The patients were first seen between 8 and 18 months of age with recurre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfcce82bd55f329752829cce4d95cd5c
https://doi.org/10.1016/s0022-3476(05)81143-6

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Biliary atresia: the Canadian experience

Autor: Jeff Critch, Richard A. Schreiber, David R. Mack, Steven R. Martin, Rabin Persad, J. Decker Butzner, Stanley P. Moroz, Herbert Brill, Fernando Alvarez, Mohsin Rashid, Eve A. Roberts, Collin C. Barker, Garth Bruce, Iwona Wrobel, Lesley J. Smith, Dominique Levesque

Publikováno v: The Journal of pediatrics. 151(6)

To determine the outcomes of Canadian children with biliary atresia.Health records of infants born in Canada between January 1, 1985 and December 31, 1995 (ERA I) and between January 1, 1996 and December 31, 2002 (ERA II) who were diagnosed with bili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8fdf5e0e7955a0e34c3b117777870cd
https://pubmed.ncbi.nlm.nih.gov/18035148

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The congenital intrahepatic arterioportal fistula syndrome: elucidation and proposed classification

Autor: Justine M. Turner, Seamus P Norton, Stanley P Moroz, Vicky L. Ng, Philip John, Kevan Jacobson, Gordon Culham

Publikováno v: Journal of pediatric gastroenterology and nutrition. 43(2)

Congenital intrahepatic arterioportal fistula is a rare but treatable cause of portal hypertension for which early recognition may lead to successful radiological management. We report an infant presenting with severe failure to thrive, melena and sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9952dd5d5e7e8da9933bea521a40a5
https://pubmed.ncbi.nlm.nih.gov/16877994

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Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency

Autor: Cornelius Bück, Esther M. Maier, Andreas Holzinger, Adelbert A. Roscher, James C. Haworth, Matthias Kappler, Hans-Beat Hadorn, J. Evan Sadler, Stanley P. Moroz, Peter U. Mayerhofer

Enteropeptidase (enterokinase [E.C.3.4.21.9]) is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which, in turn, releases active digestive enzymes from their inactiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a49893e944f696e04aa2b34e876254
https://europepmc.org/articles/PMC384888/

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Allelic association and linkage studies in Wilson disease

Autor: Lawrence T.K. Wong, Marie A. Lambert, Eve A. Roberts, Theodore O. Rosales, Stanley P. Moroz, Gordon Thomas, Dlane W. Cox

Publikováno v: Human molecular genetics. 2(9)

We have studied 21 families with Wilson disease (WND), using restriction fragment length polymorphisms (RFLPs) in the 13q14.3 region, to measure linkage of these markers to the disease locus. In addition to previously described markers, we include li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::324875b9277b6c429595ec3e286c3900
https://pubmed.ncbi.nlm.nih.gov/7902160

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Floating-Harbor syndrome and celiac disease

Autor: Albert E. Chudley, Stanley P. Moroz

Publikováno v: American journal of medical genetics. 38(4)

We report on a 17-year-old young woman with a speech impediment, developmental delay, short stature, and facial anomalies consistent with the Floating-Harbor syndrome (FHS). In addition, she has clinical and histological evidence of celiac disease, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4380dc468dd133b6f4e06e66bd20521
https://pubmed.ncbi.nlm.nih.gov/2063899

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Lower Esophageal Sphincter Function in Children With and Without Gastroesophageal Reflux

Autor: William A. Cumming, Nicholas E. Diamant, Julio Espinoza, Stanley P. Moroz

Publikováno v: Gastroenterology. 71:236-241

Resting lower esophageal sphincter (LES) pressure was assessed in infants and children 2 weeks to 12 years of age. There were 62 control subjects and 35 patients with reproducible gastroesophageal reflux (GER) determined radiologically. In control su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::56d590b47ea9b7cc9d99bbf342adc5df
https://doi.org/10.1016/s0016-5085(76)80194-1

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Liver disease associated with alpha1-antitrypsin deficiency in childhood

Autor: Ernest Cutz, Stanley P. Moroz, Andrew Sass-Kortsak, Diane W. Cox

Publikováno v: The Journal of Pediatrics. 88:19-25

Liver disease in children with alpha1-antitrypsin deficiency and protease inhibitor type ZZ does not necessarily carry a bad prognosis. Fourteen of our 18 patients presented with the neonatal hepatitis syndrome and four had hepatomegaly without jaund

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b61da949455cfc7e600b1a220c12aed3
https://doi.org/10.1016/s0022-3476(76)80720-2

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