Cellular Immune Deficiency in Two Siblings with Hereditary Orotic Aciduria

Robert Girot, M. Hamet, Jean‐Louis Pérignon, +5

New England Journal of Medicine

Pyrimidine BiosynthesisPyrimidine MetabolismGeneticsImmunologyGenetic Epidemiology +21

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].

P Cartier, M. Hamet, J Hamburger

PubMed

Metabolic DisorderPathologyMetabolic RemodelingMetabolic SyndromeBiosynthesis +14

Enzymatic activities on purine and pyrimidine metabolism in nine mycoplasma species contaminating cell cultures

M. Hamet, C Bonissol, P Cartier

Clinica Chimica Acta

Mycoplasma SpeciesEnzymatic ActivitiesPyrimidine MetabolismBiochemistryCellular Enzymology +5

Impaired defense against vaccinia in a child with T-lymphocyte deficiency associated with inosine phosphorylase defect

Jean‐Louis Virelizier, M. Hamet, Jean-Jacques Ballet, +2

The Journal of Pediatrics

VaccinationImmunological MemoryImpaired DefenseAutoimmune DiseaseAllergy +11

Rapid determination of total homocysteine in plasma.

B. Chadefaux, M. Coudé, M. Hamet, +2

Clinical Chemistry

BiochemistryMedicineBioanalysisPharmacologyChemical Pathology +5

Regional assignment of the <i>ADA </i>locus on 20q13.2→qter by gene dosage studies

T. Philip, Gilbert Lenoir, Marie-Odile Rolland, +4

Cytogenetic and Genome Research

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +19

Patient self-management of continuous subcutaneous insulin infusion

Pavel Hamet, G. Abarca, Debra Lopez, +5

Diabetes Care

Chronic NormalizationSurgeryArtificial PancreasObesityMetabolic Syndrome +16

Complete Adenosine Deaminase (ADA) Deficiency without Immunodeficiency, and Primary Hyperoxaluria, in a 12-Year-Old Boy

Jean Louis Pérignon, M. Hamet, P Cartier, +1

Advances in experimental medicine and biology

Primary HyperoxaluriaComplete Adenosine DeaminaseInherited Metabolic DiseasePathologyAdrenal Disease +2

A Second Case of Inosine Phosphorylase Deficiency with Severe T-Cell Abnormalities

M. Hamet, C Griscelli, P Cartier, +3

ImmunologyPathologyAutoimmunitySecond CaseSevere T-cell Abnormalities +3

Complete Adenine Phosphoribosyltransferase (APRT) Deficiency in Two Siblings: Report of a New Case

P Cartier, M. Hamet, Anne-Laure Vincens, +1

Advances in experimental medicine and biology

New CaseGenetic DisorderGeneticsInherited Metabolic DiseaseComplete Adenine Phosphoribosyltransferase +4