Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria
Ulbrichova, Dana, Mamet, Rivka, Munter, Gabriel, Martasek, Pavel, Schoenfeld, Nili
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria
Ulbrichova, Dana, Schneider-Yin, Xiaoye, Mamet, Rivka, Saudek, Vladimir, Martasek, Pavel, Minder, Elisabeth I., Schoenfeld, Nili
Published in Blood cells, molecules, & diseases (01.03.2009)
Published in Blood cells, molecules, & diseases (01.03.2009)
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Journal Article
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
Schneider-Yin, Xiaoye, Ulbrichova, Dana, Mamet, Rivka, Martasek, Pavel, Marohnic, Christopher C., Goren, Avner, Minder, Elisabeth I., Schoenfeld, Nili
Published in Molecular genetics and metabolism (01.07.2008)
Published in Molecular genetics and metabolism (01.07.2008)
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Journal Article
A Leading Question
Beigel, Yitzhak, Ostfeld, Iris, Schoenfeld, Nili
Published in The New England journal of medicine (17.09.1998)
Published in The New England journal of medicine (17.09.1998)
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Journal Article
Acute neuropathy mimicking porphyria induced by aminolevulinic acid during photodynamic therapy
Sylantiev, Constantin, Schoenfeld, Nili, Mamet, Rivka, Groozman, Galina B., Drory, Vivian E.
Published in Muscle & nerve (01.03.2005)
Published in Muscle & nerve (01.03.2005)
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Journal Article
Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism
Luder, A S, Mamet, R, Farbstein, I, Schoenfeld, N
Published in Cellular and molecular biology (Noisy-le-Grand, France) (16.02.2009)
Published in Cellular and molecular biology (Noisy-le-Grand, France) (16.02.2009)
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Journal Article
Acute intermittent porphyria, Rasmussen encephalitis, or both?
Tziperman, Barak, Garty, Ben-Zion, Schoenfeld, Nili, Hoffer, Vered, Watemberg, Nathan, Lev, Dorit, Ganor, Yonathan, Levite, Mia, Lerman-Sagie, Tally
Published in Journal of child neurology (01.01.2007)
Published in Journal of child neurology (01.01.2007)
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Journal Article
The effects of metalloporphyrins, porphyrins and metals on the activity of delta-aminolevulinic acid synthase in monolayers of chick embryo liver cells
Schoenfeld, N, Wysenbeek, A J, Greenblat, Y, Epstein, O, Atsmon, A, Tschudy, D P
Published in Biochemical pharmacology (01.09.1984)
Published in Biochemical pharmacology (01.09.1984)
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Journal Article
A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters
Schoenfeld, Nili, Mamet, Rivka, Minder, Elisabeth I, Schneider-Yin, Xiaoye
Published in Blood cells, molecules, & diseases (01.05.2003)
Published in Blood cells, molecules, & diseases (01.05.2003)
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Journal Article
Growth rate determines activity of porphobilinogen deaminase both in nonmalignant and malignant cell lines
Schoenfeld, Nili, Mamet, Rivka, Leibovici, Leonard, Epstein, Orit, Teitz, Yael, Atsmon, Abraham
Published in Biochemical medicine and metabolic biology (01.10.1988)
Published in Biochemical medicine and metabolic biology (01.10.1988)
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Journal Article
Lead poisoning : A new biochemical perspective on the differentiation between acquired and hereditary neuroporphyria
MAMET, Rivka, SZTERN, Mario, RACHMEL, Avinoam, STAHL, Bracha, FLUSSER, Daniel, SCHOENFELD, Nili
Published in Clinical chemistry (Baltimore, Md.) (01.09.2001)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2001)
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Journal Article
Mechanism of aluminium-induced porphyrin synthesis in bacteria
Mamet, Rivka, Scharf, Ram, Zimmels, Yoram, Kimchie, Shlomo, Schoenfeld, Nili
Published in Biometals (01.01.1996)
Published in Biometals (01.01.1996)
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Journal Article
Determination of coproporphyrinogen III oxidase activity in bacteria
Mamet, Rivka, Scharf, Ram, Keller, Nathan, Zimmels, Yoram, Schoenfeld, Nili
Published in Journal of microbiological methods (1994)
Published in Journal of microbiological methods (1994)
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