Concepedia

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: Successful correction with umbilical cord blood transplantation

Laurie A. Myers, Michael S. Hershfield, Wirt T. Neale, Maria L. Escolar, Joanne Kurtzberg

The Journal of Pediatrics · 2004 · 58 citations · 19 references

Concepts

MedicineChild HealthPediatricsDevelopmental PediatricsPediatric HematologyPediatric ImmunologyCongenital DisordersEnzyme DeficienciesGenetic DisordersPediatric TransplantationCongenital Enzyme DefectsEnzyme Deficiency DisordersPhosphorylase Kinase DeficiencyPurine Nucleoside Phosphorylase DeficiencyUmbilical Cord Blood Transfusion

References

19

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY IN A CHILD WITH SEVERELY DEFECTIVE T-CELL IMMUNITY AND NORMAL B-CELL IMMUNITY

E.R. Giblett, ArthurJ. Ammann, Robert P. Sandman et al. · The Lancet · 1975 · 863 citations

Life Sciences, Immunology, Pediatrics +10

Immunologic Disorders in Infants and Children

Archives of Disease in Childhood · 1974 · 556 citations · Full text

Life Sciences, Immunology, Pediatrics +12

Blood and Other Body Fluids

PEDIATRICS · 1961 · 536 citations

Life Sciences, Physiology, Zoology +17

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

Elena Boder, Robert P. Sedgwick · PubMed · 1958 · 433 citations

Medicine, Neurology, Ophthalmology +15