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Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

The Journal of pediatrics, 2016-10, Vol.177, p.316-320

2016

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Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders

Current rheumatology reports, 2017-11, Vol.19 (11), p.70-70, Article 70

2017

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Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency

Journal of allergy and clinical immunology, 2015-01, Vol.135 (1), p.283-287.e5

2015

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

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (32), p.14351-14356

2010

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Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation

Journal of allergy and clinical immunology, 2016-08, Vol.138 (2), p.628-630.e2

2016

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SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience

Rheumatology (Oxford, England), 2010-04, Vol.49 (4), p.823-824

2010

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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

The New England journal of medicine, 2014-03, Vol.370 (10), p.911-920

2014

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Diabetes insipidus in uricase-deficient mice: A model for evaluating therapy with poly(ethylene glycol)-modified uricase

Journal of the American Society of Nephrology, 2001-05, Vol.12 (5), p.1001-1009

2001

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Unexpected finding on staging bone marrow aspirate for Hodgkin’s lymphoma

BMJ case reports, 2009, Vol.2009 (may21 1), p.bcr1220081298-bcr1220081298

2009

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Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs

Expert opinion on orphan drugs, 2021-12, Vol.9 (11-12), p.257-264

2021

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The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV

The Journal of experimental medicine, 2000-11, Vol.192 (9), p.1223-1236

2000

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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

The Journal of experimental medicine, 2000-11, Vol.192 (9), p.1223-1236

2000

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Hydrolysis of phosphonate esters catalyzed by 5'-nucleotide phosphodiesterase

Biochemistry (Easton), 1975-11, Vol.14 (22), p.4983-4988

1975

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Enzymic hydrolysis of phosphonate esters. Reaction mechanism of intestinal 5'-nucleotide phosphodiesterase

Biochemistry (Easton), 1977-03, Vol.16 (6), p.1102-1104

1977

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Studies of the developmental potential of 4- and 8-cell stage mouse blastomeres

The Journal of experimental zoology, 1977-06, Vol.200 (3), p.365-376

Kelly, Susan J.

1977

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The effect of short-term labelling in [3H]thymidine on the viability of mouse blastomeres: alone and in combination with unlabelled blastomeres

Development (Cambridge), 1976-02, Vol.35 (1), p.95-106

1976

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Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high Hb A2

British journal of haematology, 1992-12, Vol.82 (4), p.735-744

1992

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Synthesis of monoesters of aryl- (or alkyl-) phosphonic acids of selected arenols. Study of the effect of dimethylformamide on the preparation of 2-naphthylphenylphosphonic acid via proton and phosphorus-31 nuclear magnetic resonance analysis

Journal of organic chemistry, 1976-04, Vol.41 (7), p.1160-1165

1976

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Stimulation of alkaline phosphatase by analogs of inorganic pyrophosphate

Biochemistry (Easton), 1974-08, Vol.13 (17), p.3503-3505

1974

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Kinetic effects of inorganic pyrophosphate analogs on several inorganic pyrophosphate hydrolyzing enzymes

Biochemistry (Easton), 1973-08, Vol.12 (17), p.3338-3341

1973

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Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high Hb A 2

British journal of haematology, 1992-12, Vol.82 (4), p.735-744

1992

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Nocardiosis in an immunocompromised patient—an unusual presentation

The Journal of infection, 1991-05, Vol.22 (3), p.269,IN1,271-270,IN1,271

1991

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Draft Genome Sequence of Mentha Iongifolia and Development of Resources for Mint Cultivar Improvement

分子植物：英文版, 2017, Vol.10 (2), p.323-339

Kelly J. Vining Sean R. Johnson Amirhossein Ahkami Iris Lange Amber N. Parrish Susan C. Trapp Rodney B. Croteau Shannon C.K. Straub Iovanna Pandelova B. Markus Lange

2017

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LOSS OF LUTEINIZING HORMONE BIOACTIVITY IN PATIENTS WITH PROSTATIC CANCER TREATED WITH AN LHRH AGONIST AND A PURE ANTIANDROGEN

Clinical endocrinology (Oxford), 1986-01, Vol.24 (1), p.21-30

1986

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SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience

Rheumatology (Oxford, England), 2010, Vol.49 (4), p.823-824

2010

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Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency

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

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation

SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Diabetes insipidus in uricase-deficient mice: A model for evaluating therapy with poly(ethylene glycol)-modified uricase

Unexpected finding on staging bone marrow aspirate for Hodgkin’s lymphoma

Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs

The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV

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

Hydrolysis of phosphonate esters catalyzed by 5'-nucleotide phosphodiesterase

Enzymic hydrolysis of phosphonate esters. Reaction mechanism of intestinal 5'-nucleotide phosphodiesterase

Studies of the developmental potential of 4- and 8-cell stage mouse blastomeres

The effect of short-term labelling in [3H]thymidine on the viability of mouse blastomeres: alone and in combination with unlabelled blastomeres

Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high Hb A2

Synthesis of monoesters of aryl- (or alkyl-) phosphonic acids of selected arenols. Study of the effect of dimethylformamide on the preparation of 2-naphthylphenylphosphonic acid via proton and phosphorus-31 nuclear magnetic resonance analysis

Stimulation of alkaline phosphatase by analogs of inorganic pyrophosphate

Kinetic effects of inorganic pyrophosphate analogs on several inorganic pyrophosphate hydrolyzing enzymes

Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high Hb A 2

Nocardiosis in an immunocompromised patient—an unusual presentation

Draft Genome Sequence of Mentha Iongifolia and Development of Resources for Mint Cultivar Improvement

LOSS OF LUTEINIZING HORMONE BIOACTIVITY IN PATIENTS WITH PROSTATIC CANCER TREATED WITH AN LHRH AGONIST AND A PURE ANTIANDROGEN

SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience

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