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Santisteban I 's Articles

[29744787] ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Cagdas Deniz , Gur Cetinkaya Pınar , Karaatmaca Betül , Esenboga Saliha , Tan Cagman , Yılmaz Togay , Gümüş Ersin , Barış Safa , Kuşkonmaz Barış , Ozgur Tuba Turul , Bali Pawan , Santisteban Ines , Orhan Diclehan , Yüce Aysel , Cetinkaya Duygu , Boztug Kaan , Hershfield Michael , Sanal Ozden , Tezcan İlhan ,

[26376800] Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

Baffelli Renata , Notarangelo Lucia D , Imberti Luisa , Hershfield Michael S , Serana Federico , Santisteban Ines , Bolda Federica , Porta Fulvio , Lanfranchi Arnalda ,

[25540335] Draft Genome Sequence of the Novel Black-Pigmented Planococcus sp. Strain CAU13.

Unverferth Cameron A , Santisteban Ian C , Setterdahl Aaron T ,

[24767876] Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

la Marca Giancarlo , Canessa Clementina , Giocaliere Elisa , Romano Francesca , Malvagia Sabrina , Funghini Silvia , Moriondo Maria , Valleriani Claudia , Lippi Francesca , Ombrone Daniela , Della Bona Maria Luisa , Speckmann Carsten , Borte Stephan , Brodszki Nicholas , Gennery Andrew R , Weinacht Katja , Celmeli Fatih , Pagel Julia , de Martino Maurizio , Guerrini Renzo , Wittkowski Helmut , Santisteban Ines , Bali Pawan , Ikinciogullari Aydan , Hershfield Michael , Notarangelo Luigi D , Resti Massimo , Azzari Chiara ,

[23280131] Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca Giancarlo , Canessa Clementina , Giocaliere Elisa , Romano Francesca , Duse Marzia , Malvagia Sabrina , Lippi Francesca , Funghini Silvia , Bianchi Leila , Della Bona Maria Luisa , Valleriani Claudia , Ombrone Daniela , Moriondo Maria , Villanelli Fabio , Speckmann Carsten , Adams Stuart , Gaspar Bobby H , Hershfield Michael , Santisteban Ines , Fairbanks Lynette , Ragusa Giovanni , Resti Massimo , de Martino Maurizio , Guerrini Renzo , Azzari Chiara ,

[22805442] Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.

Kanegane Hirokazu , Taneichi Hiromichi , Nomura Keiko , Wada Taizo , Yachie Akihiro , Imai Kohsuke , Ariga Tadashi , Santisteban Ines , Hershfield Michael S , Miyawaki Toshio ,

[22578972] Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.

Speckmann Carsten , Neumann Carla , Borte Stephan , la Marca Giancarlo , Sass Jörn Oliver , Wiech Elisabeth , Fisch Paul , Schwarz Klaus , Buchholz Bernd , Schlesier Michael , Felgentreff Kerstin , Grimbacher Bodo , Santisteban Ines , Bali Pawan , Hershfield Michael S , Ehl Stephan ,

[21671975] Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

Moncada-Vélez M , Vélez-Ortega A , Orrego J , Santisteban I , Jagadeesh J , Olivares M , Olaya N , Hershfield M , Candotti F , Franco J ,

[21410451] ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability.

Okura Yuka , Yamada Masafumi , Kobayashi Ichiro , Santisteban Ines , Arredondo-Santisteban Gabriella , Kato Zenichiro , Iguchi Akihiro , Yoshida Makoto , Ohara Osamu , Nakagawa Noriko , Imai Kohsuke , Hershfield Michael S , Ariga Tadashi ,

[20660758] Treating gout with pegloticase, a PEGylated urate oxidase, provides insight into the importance of uric acid as an antioxidant in vivo.

Hershfield Michael S , Roberts L Jackson , Ganson Nancy J , Kelly Susan J , Santisteban Ines , Scarlett Edna , Jaggers Denise , Sundy John S ,

[20039061] Late-onset adenosine deaminase deficiency presenting with Heck's disease.

Artac Hasibe , Göktürk Bahar , Bozdemir Sefika Elmas , Toy Hatice , van der Burg Mirjam , Santisteban Ines , Hershfield Michael , Reisli Ismail ,

[19657670] Purine nucleoside phosphorylase deficiency with fatal course in two sisters.

Aytekin Caner , Dogu Figen , Tanir Gonul , Guloglu Deniz , Santisteban Ines , Hershfield Michael S , Ikinciogullari Aydan ,

[19584574] Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.

Alangari Abdullah , Al-Harbi Abdullah , Al-Ghonaium Abdulaziz , Santisteban Ines , Hershfield Michael ,

[18952502] Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.

Liu Ping , Santisteban Ines , Burroughs Lauri M , Ochs Hans D , Torgerson Troy R , Hershfield Michael S , Rawlings David J , Scharenberg Andrew M ,

[16002636] polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency.

Lainka Elke , Hershfield Michael S , Santisteban Ines , Bali Pawan , Seibt Annette , Neubert Jennifer , Friedrich Wilhelm , Niehues Tim ,

[12840549] E. coli expression system for identifying folding mutations of human adenosine deaminase.

Santisteban Ines , Arredondo-Vega Francisco X , Daniels Shannon , Hershfield Michael S ,

[11807006] Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.

Arredondo-Vega Francisco X , Santisteban Ines , Richard Eva , Bali Pawan , Koleilat Majed , Loubser Michael , Al-Ghonaium Abdulaziz , Al-Helali Mariam , Hershfield Michael S ,

[11157502] Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency.

Rubocki R J , Parsa J R , Hershfield M S , Sanger W G , Pirruccello S J , Santisteban I , Gordon B G , Strandjord S E , Warkentin P I , Coccia P F ,

[11067872] The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.

Richard E , Arredondo-Vega F X , Santisteban I , Kelly S J , Patel D D , Hershfield M S ,

[10200056] Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

Arrendondo-Vega F X , Santisteban I , Notarangelo L D , El Dahr J , Buckley R , Roifman C , Conley M E , Hershfield M S ,

[9758612] Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega F X , Santisteban I , Daniels S , Toutain S , Hershfield M S ,

[9211190] Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.

Hershfield M S , Arredondo-Vega F X , Santisteban I ,

[9108404] Adenosine deaminase deficiency in adults.

Ozsahin H , Arredondo-Vega F X , Santisteban I , Fuhrer H , Tuchschmid P , Jochum W , Aguzzi A , Lederman H M , Fleischman A , Winkelstein J A , Seger R A , Hershfield M S ,

[8614422] Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

Bollinger M E , Arredondo-Vega F X , Santisteban I , Schwarz K , Hershfield M S , Lederman H M ,

[8589684] Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

Santisteban I , Arredondo-Vega F X , Kelly S , Loubser M , Meydan N , Roifman C , Howell P L , Bowen T , Weinberg K I , Schroeder M L ,

[7599635] Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

Santisteban I , Arredondo-Vega F X , Kelly S , Debre M , Fischer A , Pérignon J L , Hilman B , elDahr J , Dreyfus D H , Gelfand E W ,

[8178821] Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Arredondo-Vega F X , Santisteban I , Kelly S , Schlossman C M , Umetsu D T , Hershfield M S ,

[8227344] Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Santisteban I , Arredondo-Vega F X , Kelly S , Mary A , Fischer A , Hummell D S , Lawton A , Sorensen R U , Stiehm E R , Uribe L ,

[1974554] Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Arredondo-Vega F X , Kurtzberg J , Chaffee S , Santisteban I , Reisner E , Povey M S , Hershfield M S ,

[2516426] Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2.

Shephard E A , Phillips I R , Santisteban I , West L F , Palmer C N , Ashworth A , Povey S ,

[2729895] Cloning, expression and chromosomal localization of a member of the human cytochrome P450IIC gene sub-family.

Shephard E A , Phillips I R , Santisteban I , Palmer C N , Povey S ,

[3273605] [Human aldehyde dehydrogenase in a sample of the Costa Rican population].

Santisteban I , Baudrit Gómez F ,

[3268037] Cloning and chromosomal mapping of human cytochrome b5 reductase (DIA1).

Bull P C , Shephard E A , Povey S , Santisteban I , Phillips I R ,

[3248006] The major phenobarbital-inducible cytochrome P-450 gene subfamily (P450IIB) mapped to the long arm of human chromosome 19.

Santisteban I , Povey S , Shephard E A , Phillips I R ,

[4073832] Chromosome assignment, biochemical and immunological studies on a human aldehyde dehydrogenase, ALDH3.

Santisteban I , Povey S , West L F , Parrington J M , Hopkinson D A ,

[4015840] Biochemical genetic analysis of human and rodent aldehyde dehydrogenase (ALDH).

Hopkinson D A , Santisteban I , Povey S , Smith M ,

[6665250] [Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica].

de Céspedes C , Santisteban I , Ortiz D , Rojas E , Rodríguez J , Nanne C , Orlich J ,

[6459792] [Epidemiology of endemic goiter in Costa Rica].

Flores M E , López M E , Santisteban I , de Céspedes C ,

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