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Publications Authored by Nili Schoenfeld | PubFacts
Nili Schoenfeld

Nili Schoenfeld

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Publications by authors named "Nili Schoenfeld"

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7Publications

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Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.

Hum Genet 2010 Jan;127(1):114

Department of Pediatrics and Center for Applied Genomics, 1st School of Medicine, Charles University, Prague, Czech Republic.

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January 2010

Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.

Blood Cells Mol Dis 2009 Mar-Apr;42(2):167-73. Epub 2009 Jan 12.

Department of Pediatrics and Center for Applied Genomics, 1st School of Medicine, Charles University, Prague, Czech Republic.

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http://linkinghub.elsevier.com/retrieve/pii/S107997960800221
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http://dx.doi.org/10.1016/j.bcmd.2008.11.001DOI Listing
May 2009

Acute intermittent porphyria, Rasmussen encephalitis, or both?

J Child Neurol 2007 Jan;22(1):99-105

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/0883073807299962DOI Listing
January 2007

Acute intermittent porphyria: psychosis as the only clinical manifestation.

Isr J Psychiatry Relat Sci 2006 ;43(1):52-6

Geha Mental Health Center, Petah Tiqva, Israel.

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September 2006

Acute neuropathy mimicking porphyria induced by aminolevulinic acid during photodynamic therapy.

Muscle Nerve 2005 Mar;31(3):390-3

Department of Neurology, Tel Aviv Sourasky Medical Center, 6, Weizman Street, Tel Aviv 642 39, Israel.

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http://dx.doi.org/10.1002/mus.20167DOI Listing
March 2005

A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters.

Blood Cells Mol Dis 2003 May-Jun;30(3):298-301

Porphyria Reference Laboratory, Rabin Medical Center, Beilinson Campus, Sackler Faculty of Medicine, Tel Aviv University, Petah-Tikva, Israel.

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March 2004