A human purine nucleoside phosphorylase deficiency caused by a single base changeMolecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiencyPurine nucleoside phosphorylase deficiencyMutations in purine nucleoside phosphorylase deficiencyA rat model of purine nucleoside phosphorylase deficiencyA canine model of induced purine nucleoside phosphorylase deficiencyThe metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiencyErythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytesGenetic models of purine nucleoside phosphorylase deficiency in the mouseAdenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.Deoxyribonucleoside toxicity in adenosine deaminase and purine nucleoside phosphorylase deficiency: implications for the development of new immunosuppressive agents.Adenosine deaminase and purine nucleoside phosphorylase deficiency: how they were discovered and what they may mean.Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s).Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assayCentral nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiencyPurine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from IndiaNovel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated DonorPurine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members.Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.Purine nucleoside phosphorylase deficiency: a mutation update.Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families.Effects of purine nucleoside phosphorylase deficiency on thymocyte development.Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test.Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function.Deoxyguanosine toxicity on lymphoid cells as a cause for immunosuppression in purine nucleoside phosphorylase deficiency.Red cell metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy.Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function.Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency.Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity.Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.Mechanisms of 2'-deoxyguanosine toxicity in mouse T-lymphoma cells with purine nucleoside phosphorylase deficiency and resistance to inhibition of ribonucleotide reductase by dGTP.A patient with purine nucleoside phosphorylase deficiency: enzymological and metabolic aspects.Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
P921
Q22254863-C69EE015-24CA-4920-BA5E-0369C4E5FE5EQ24669781-D9566C1C-7D8D-4802-8DAF-BEEB76A8742EQ28239114-1DAEAB13-CE3C-4CED-A181-21182E1B16BCQ28305762-B343DBFC-5107-4097-9EBC-067CFDC63A63Q28360439-70AA529B-7280-438A-95FD-70AB3FCD1BB5Q28360507-0D284072-F93F-468E-AF17-14D6AED7C4F9Q28366279-5843B59C-029D-4C8F-86DA-C8101720FC9DQ28367127-3DBECD4E-AEA7-44E1-8641-47F04C33B20DQ28586336-45FFF984-CF3A-4405-B080-9D9404EBEDEFQ33655302-4AED1820-3D40-4160-8519-117F443E7E04Q33738308-BAC90344-705E-481E-92CD-E0CB94B57694Q34375537-4334EEDC-7209-47BF-8E0B-47305D33A92FQ34376109-551BFF22-3328-480E-B359-7B152438898FQ35053909-2899066D-EA16-468E-B3DB-BC00BFDA64EDQ35204045-31EDBF4E-69C2-4BCD-865D-8B2E95C1ECF8Q35603773-230130C7-CFA4-42E8-901E-3F297F80E0B7Q35614239-B220769F-51A1-4969-B93F-9C411D236088Q36090581-724611A5-0F93-4354-895C-4CAB9F9B6296Q37046987-27924BA2-3A34-4C73-894B-B9D8D8DD8778Q37053964-9B664872-1E5A-4306-BD28-1EF2CF117575Q37963495-F576347A-3A82-4EF5-BA66-BC7B790982D0Q38926639-9D00D034-F457-46C8-8C0A-C950E1FBA558Q39251224-07C17A65-DEC3-4B16-BB69-3A789EBCF085Q39484575-7A01CC38-249B-492F-BC4B-8EC0A1642CC5Q39536006-6564371C-8BE3-4F3C-A8AC-2424716B04F6Q39601062-F41E3984-550D-4DD6-9F1A-C66FFA02D2D9Q39617729-1E9D7D8B-6456-4A3A-B18A-F016CFA9EA22Q39635617-2B1FB5C4-07E2-485B-B9CC-1CF967C0D217Q39659426-3B479263-F8DD-4B4D-AACD-84E2E1AB7F09Q39659448-C3554B39-E6DF-4ACE-95B1-E5DA6BD7FA53Q39664875-CF2F5A9F-BEC2-41A2-A0A8-736A159DA3BCQ39666112-28030892-2F57-4634-BCFE-C2F13BB159EAQ39675046-7F2B5B8B-D8C9-4887-A46E-C901B77851ADQ40135959-17BB6A8E-3795-4D1A-97DA-B8C9C230C281Q40432936-188A5CD4-BC72-4939-89A7-F717E86EE1D8Q40444190-EFAF50A0-98C6-42DE-B6FC-57FD49C8143CQ40789622-1D367136-C52D-4CB4-87F9-4704598E2874Q41194286-3ABB52C7-A728-421B-AE69-FCED40B08A05Q41223106-1A669F33-E5B1-4C09-902D-6BF21E49E67CQ41231570-5DA751B3-C66E-42DF-81D6-B961746AB8C0
P921
description
Krankheit
@de
bardzo rzadka, genetycznie uwa ...... zaburzenie metaboliczne puryn
@pl
combined T cell and B cell imm ...... y by decreased T-cell function
@en
name
Déficit en purine nucléoside phosphorylase
@fr
Niedobór fosforylazy nukleozydów purynowych
@pl
purine nucleoside phosphorylase deficiency
@en
type
label
Déficit en purine nucléoside phosphorylase
@fr
Niedobór fosforylazy nukleozydów purynowych
@pl
purine nucleoside phosphorylase deficiency
@en
altLabel
Deficit en purine nucleoside phosphorylase
@fr
Déficit En Purine Nucléoside Phosphorylase
@fr
PNP deficiency
@en
Purine nucleoside phosphorylase deficiency
@en
Purine-Nucleoside Phosphorylase deficiency
@en
deficiency of inosine phosphorylase
@en
niedobór PNP
@pl
prefLabel
Déficit en purine nucléoside phosphorylase
@fr
Niedobór fosforylazy nukleozydów purynowych
@pl
purine nucleoside phosphorylase deficiency
@en
P486
P6366
P1748
P2293
P2892
P4229
P486
P492
P6366
2779929788
2910205911