Search Results - "DELEZE, G"

PRENATAL DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE by SCHORDERET, DANIEL F., HUBER, MARCEL, LAURINI, RICHARD N., VON MOOS, GENEVIGÈVE, GIANADDA, BERNARD, DÉLÈZE, GUY, HOHL, DANIEL

“…Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been…”
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Chronic metabolic alkalosis in an infant with cystic fibrosis by EIGENMANN, P, DELEZE, G, KUCHLER, H

“…A 6-month-old infant suffering from cystic fibrosis is reported. In spite of an apparently appropriate treatment and in absence of respiratory infection, the…”
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Infected teratoma of lower posterior mediastinum in a six-year-old boy by SIDANI, A. H, OBERSON, R, DELEZE, G, BARRAS, M. H, GENTON, N, LAURINI, R

“…A six-year old boy presented with prolonged unexplained fever caused by an infected teratoma of the lower posterior mediastinum. Modern imaging, combining…”
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Bile acid pattern in human amniotic fluid by Délèze, G, Paumgartner, G, Karlaganis, G, Giger, W, Reinhard, M, Sidiropoulos, D

“…Individual bile acids were determined in twenty-nine amniotic fluid specimens obtained from twenty-six women between the 32nd and 41st week of gestation. Total…”
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Anti-liver-kidney microsome antibody-positive autoimmune hepatitis associated with alopecia by CHAVES, V, PAUNIER, L, BERCLAZ, R, DELEZE, G, ABUAF, N, BELLI, D. C

“…A 14-year-old girl presented with anti-liver-kidney microsome autoimmune hepatitis preceded by alopecia 3 years earlier. Both pathologies were greatly improved…”
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Determination of bile acid concentration in human amniotic fluid for prenatal diagnosis of intestinal obstruction by Délèze, G, Sidiropoulos, D, Paumgartner, G

“…Bile acid concentration was measured in amniotic fluid obtained for standard indications from 11 healthy pregnant women without polyhydramnios (28 to 42 weeks…”
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Bile Acids and Bile Alcohols in Two Patients with Zellweger (Cerebro‐Hepato‐Renal) Syndrome by Délèze, Guy, Björkhem, Ingemar, Karlaganis, Georg

“…Summary The Zellweger cerebro‐hepato‐rcnal syndrome (CHRS) is a rare hereditary disease in which there is a generalized deficiency of peroxisomal function…”
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Bile acids in serum and bile of infants with cholestatic syndromes by Délèze, G, Paumgartner, G

“…The concentration of individual bile acids in serum was measured in 18 neonates and infants with various cholestatic conditions (extrahepatic biliary atresia,…”
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Disseminated histoplasmosis in an adopted infant from El Salvador by TROILLET, N, LLOR, J, KUCHLER, H, DELEZE, G, PRAZ, G

“…An HIV-negative 4-month-old infant recently adopted from El Salvador was admitted for high fever. Hepatosplenomegaly, anaemia, leucopenia, thrombocytopenia,…”
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PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency by Sedano, Isabel Boo, Röthlisberger, Benno, Délèze, Guy, Ottiger, Cornelia, Panchard, Marc‐Alain, Spahr, André, Hergersberg, Martin, Bürgi, Willi, Huber, Andreas

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Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings by Catzeflis, C, Bachmann, C, Hale, D E, Coates, P M, Wiesmann, U, Colombo, J P, Joris, F, Délèze, G

“…Two siblings are reported who were symptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem…”
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Stellungnahme zur Verwendung von Säuglingsnahrungen auf Sojaeiweißbasis by Koletzko, B.

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Risk Factors for Invasive Haemophilus influenzae Disease among Children 2–16 Years of Age in the Vaccine Era, Switzerland 1991–1993 by MŪHLEMANN, KATHRIN, ALEXANDER, E RUSSELL, WEISS, NOEL S, PEPE, MARGARET, SCHOPFER, KURT

“…Mūhlemann K (Institute of Medical Microbiology, Friedbūhistrasse 51, University of Berne, CH-3010 Berne, Switzerland), Alexander E R, Weiss N S, Pepe M,…”
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Pneumothorax and mediastinal emphysema of the newborn by Torrado, A, Deleze, G

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"My child eats nothing" (summary of a psychosocial workshop) by Délèze, G, Ansermet, F

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Cholestatic syndromes in infancy (author's transl) by Délèze, G

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Cow's milk protein intolerance in childhood. Review of 30 cases by Déléze, G, Nusslé, D

“…Retrospective clinical study of 30 cases of cow's milk protein intolerance with a long term follow-up (3-141/2 years) in 22 cases. The onset of the disease is…”
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Current concepts on the feeding of low birthweight infants by Delèze, G

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Congenital sucrase-isomaltase deficiency: a rare cause of chronic or recurrent diarrhea in children by Délèze, G, Spahr, A

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Detection of 3 beta-hydroxy-5-cholenoic acid in human amniotic fluid by Paumgartner, G, Délèze, G, Karlaganis, G, Giger, W, Reinhard, M, Sidiropoulos, D

“…Studies of the bile acids of human meconium suggest that a fetal pathway of bile acid synthesis exists which leads to formation of 3beta-hydroxy-5-cholenoic…”
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