Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Moshe Berant"'
Autor:
N. G. G. M. Abeling, Jochen Reiss, A. H. van Gennip, Claude Dorche, Nadine Cohen, A Cohen-Akenine, Raymonde Szargel, Marie-Therese Zabot, Hanna Mandel, Moshe Berant, A Shalata
Publikováno v:
American journal of human genetics, 63(1), 148-154. Cell Press
SummaryMolybdenum cofactor deficiency (MoCoD) is a fatal disorder manifesting, shortly after birth, with profound neurological abnormalities, mental retardation, and severe seizures unresponsive to any therapy. The disease is a monogenic, autosomal r
Publikováno v:
Biochemical and biophysical research communications, 250(2), 369-373. Academic Press Inc.
Plasmalogens are ether-glycerophospholipids that exist in all mammalian cells, but their physiological function remains thus far an enigma. It has been previously suggested that the association of high-density lipoprotein (HDL) with cellular phosphol
Publikováno v:
Prenatal Diagnosis. 17:907-911
Agenesis of the vermis as detected during gestation by ultrasonography may indicate the existence of various malformation arrays or syndromes. We report on our observations of five cases of complete vermal agenesis that were detected at 22-31 weeks o
Autor:
Lucyna Bassan, Drora Berkowitz, Yehezkel Naveh, Moshe Berant, Michael Jaffe, Hanna Mandel, Eldad Rosenthal
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 24:548-554
Background: Progressive familial intrahepatic cholestasis, which constitutes a heterogeneous group of imperfectly delineated syndromes and appears to be inherited as an autosomal recessive condition, has not been hitherto reported from the Middle Eas
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 24:434-438
Publikováno v:
Annals of the New York Academy of Sciences. 804:752-755
Publikováno v:
Pediatric Hematology and Oncology. 13:503-510
Treatment of episodes of fever and neutropenia in pediatric hematology-oncology patients includes hospitalization and administration of intravenous antibiotics until the patient is afebrile and no longer neutropenic. The present analysis characterize
Autor:
H. Goez, R. H. Schutgens, Moshe Berant, D. Meiron, Hanna Mandel, J. Horowitz, Ronald J.A. Wanders
Publikováno v:
Journal of pediatric gastroenterology and nutrition, 20(1), 98-101. Lippincott Williams and Wilkins
Publikováno v:
Pediatric Nephrology. 17:370-372
We report a girl with severe congenital neutropenia who has received long-term granulocyte-colony stimulating factor (G-CSF) therapy and has developed macroscopic hematuria, proteinuria, and decreased renal function associated with biopsy-proven memb
Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease
Publikováno v:
American Journal of Medical Genetics. 47:37-40
We report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities (“CMD Plus” condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvemen