1.
Ann Pediatr (Paris)
; 34(4): 279-84, 1987 Apr.
Article
in French
| MEDLINE
| ID: mdl-3605974
2.
Lancet
; 2(8466): 1246, 1985 Nov 30.
Article
in English
| MEDLINE
| ID: mdl-2866322
3.
Presse Med
; 12(43): 2751-3, 1983 Nov 26.
Article
in French
| MEDLINE
| ID: mdl-6228836
ABSTRACT
Hereditary pyropoikilocytosis is a congenital haemolytic anaemia recently described. A new case is reported in which the condition was diagnosed by a study of erythrocyte membrane proteins in the parents. The unusual clinical features of this case lead to a discussion of the relationship between hereditary pyropoikilocytosis and other rare forms of elliptocytosis in children.
Subject(s)
Anemia, Hemolytic, Congenital/blood , Erythrocytes, Abnormal/pathology , Hemolysis , Erythrocytes, Abnormal/analysis , Hot Temperature , Humans , Infant, Newborn , Male , Spectrin/analysis
4.
Ann Pediatr (Paris)
; 24(8-9): 551-62, 1977 Sep.
Article
in French
| MEDLINE
| ID: mdl-16211909
Subject(s)
Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis , Xanthine Oxidase/deficiency , Xanthine/urine , Child , Diagnosis, Differential , Female , Humans , Hydronephrosis/diagnosis , Hydronephrosis/genetics , Hydronephrosis/surgery , Male , Pedigree , Purine-Pyrimidine Metabolism, Inborn Errors/genetics , Purine-Pyrimidine Metabolism, Inborn Errors/surgery , Ureteral Calculi/diagnosis , Ureteral Calculi/genetics , Ureteral Calculi/surgery , Ureterostomy , Urography
5.
Ann Pediatr (Paris)
; 24(8-9): 575-86, 1977 Sep.
Article
in French
| MEDLINE
| ID: mdl-16211911
Subject(s)
Angiokeratoma/pathology , Fabry Disease/genetics , Fabry Disease/pathology , Kidney/pathology , Skin Neoplasms/pathology , Adult , Angiokeratoma/diagnosis , Angiokeratoma/genetics , Child , Child, Preschool , Chromosomes, Human, X/genetics , Fabry Disease/diagnosis , Female , Genes, Recessive , Genetic Carrier Screening , Glycosphingolipids/urine , Humans , Leukocytes/enzymology , Male , Microscopy, Electron , Sex Chromosome Aberrations , Skin Neoplasms/diagnosis , Skin Neoplasms/genetics , Trihexosylceramides/urine
6.
Ann Med Interne (Paris)
; 124(3): 187, 1973 Mar.
Article
in French
| MEDLINE
| ID: mdl-4716711
7.
Arch Fr Pediatr
; 30(1): 15-27, 1973 Jan.
Article
in French
| MEDLINE
| ID: mdl-4721585
Subject(s)
Amino Acid Metabolism, Inborn Errors , Ammonia/blood , Ornithine Carbamoyltransferase , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acids/analysis , Brain/enzymology , Chromatography , Dietary Proteins , Humans , Infant, Newborn , Intestines/enzymology , Kinetics , Liver/enzymology , Male , Ornithine Carbamoyltransferase/analysis , Pedigree
8.
Ann Pediatr (Paris)
; 19(11): 749-58, 1972 Nov 02.
Article
in French
| MEDLINE
| ID: mdl-4641243
9.
Arch Fr Pediatr
; 29(8): 894, 1972 Oct.
Article
in French
| MEDLINE
| ID: mdl-4657339
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/complications , Hyperbilirubinemia/etiology , Jaundice, Neonatal/etiology , Exchange Transfusion, Whole Blood , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Humans , Hyperbilirubinemia/enzymology , Infant, Newborn , Jaundice, Neonatal/enzymology , Male
10.
Ann Endocrinol (Paris)
; 33(5): 529-30, 1972.
Article
in French
| MEDLINE
| ID: mdl-4660449
Subject(s)
Adrenal Gland Neoplasms/genetics , Pheochromocytoma/genetics , Renal Artery Obstruction/complications , Adrenal Gland Neoplasms/complications , Adrenal Gland Neoplasms/surgery , Child , Female , Humans , Hypertension, Renal/etiology , Male , Pheochromocytoma/complications , Pheochromocytoma/surgery
11.
Soins
; 17(1): 7-15, 1972 Jan.
Article
in French
| MEDLINE
| ID: mdl-4480805
12.
Ann Pediatr (Paris)
; 18(11): 667-74, 1971 Nov 14.
Article
in French
| MEDLINE
| ID: mdl-5142278
Subject(s)
Adenoviridae/isolation & purification , Bronchi/pathology , Bronchiolitis, Viral/complications , Measles virus/isolation & purification , Acid-Base Equilibrium , Bronchiolitis, Viral/diagnosis , Bronchiolitis, Viral/diagnostic imaging , Bronchiolitis, Viral/microbiology , Bronchiolitis, Viral/pathology , Child, Preschool , Female , Humans , Infant , Lung/pathology , Measles/complications , Radiography , Respiration, Artificial , Respiratory Insufficiency/etiology
13.
Ann Pediatr (Paris)
; 17(11): 790-5, 1970 Nov 02.
Article
in French
| MEDLINE
| ID: mdl-4394946
Subject(s)
Arteritis , Infant, Newborn, Diseases/etiology , Lung Diseases/etiology , Pulmonary Artery/pathology , Arteritis/complications , Female , Granulomatosis with Polyangiitis , Humans , Hypersensitivity/complications , Hypertension, Pulmonary/complications , Infant, Newborn , Necrosis , Polyarteritis Nodosa/complications , Polyarteritis Nodosa/etiology
14.
Sem Hop
; 46(4): 223-37, 1970 Jan 20.
Article
in French
| MEDLINE
| ID: mdl-4313060
Subject(s)
Anemia, Sickle Cell , Abdomen, Acute/etiology , Acidosis , Amino Acids/analysis , Anemia, Hemolytic/etiology , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/diagnostic imaging , Anemia, Sickle Cell/drug therapy , Anemia, Sickle Cell/pathology , Blood Protein Electrophoresis , Blood Volume , Bone Diseases/etiology , Child , Child, Preschool , Dextrans/therapeutic use , Female , Fibrinolysis , Genes , Genetic Code , Glucosephosphate Dehydrogenase/blood , Hematocrit , Hemoglobinopathies/genetics , Hemoglobins, Abnormal/analysis , Hemorrhage/etiology , Heterozygote , Humans , Hypoxia , Infant , Kidney/pathology , Kidney Function Tests , Male , Mutation , Neurologic Manifestations , Osmolar Concentration , Oxygen , Polyuria/etiology , Urography
15.
Ann Pediatr (Paris)
; 16(12): 740-7, 1969 Dec 02.
Article
in French
| MEDLINE
| ID: mdl-4983486
Subject(s)
Echinococcosis , Splenic Diseases , Adolescent , Celiac Artery/diagnostic imaging , Complement Fixation Tests , Echinococcosis/diagnostic imaging , Echinococcosis/epidemiology , Echinococcosis/surgery , Eosinophilia/complications , Female , Fluorescent Antibody Technique , Hemagglutination Tests , Humans , Immunodiffusion , Immunoelectrophoresis , Passive Cutaneous Anaphylaxis , Radiography , Radionuclide Imaging , Serologic Tests , Splenic Diseases/surgery
16.
Ann Endocrinol (Paris)
; 30(5): 641-57, 1969.
Article
in French
| MEDLINE
| ID: mdl-5307782
Subject(s)
Hypogonadism , Laurence-Moon Syndrome , Adolescent , Adult , Age Factors , Amblyopia , Child , Child, Preschool , Female , Follicle Stimulating Hormone/analysis , Genitalia, Female/abnormalities , Hormones/analysis , Humans , Infant , Infant, Newborn , Intellectual Disability , Karyotyping , Laurence-Moon Syndrome/embryology , Laurence-Moon Syndrome/etiology , Laurence-Moon Syndrome/genetics , Limb Deformities, Congenital , Male , Middle Aged , Obesity , Penis/abnormalities , Retinitis Pigmentosa , Sex Factors , Testis/abnormalities , Vision Disorders
17.
Ann Med Interne (Paris)
; 120(8): 507-22, 1969.
Article
in French
| MEDLINE
| ID: mdl-4926847
Subject(s)
Adrenal Insufficiency/congenital , Disorders of Sex Development/etiology , Enzyme Repression , Gonadal Steroid Hormones/biosynthesis , Adolescent , Aldosterone/metabolism , Androgens/biosynthesis , Animals , Child , Child, Preschool , Female , Humans , Hydrocortisone/metabolism , Hyperplasia/congenital , Infant , Infant, Newborn , Lyases/metabolism , Male , Mixed Function Oxygenases/metabolism , Pregnenolone/biosynthesis , Progesterone/biosynthesis , Rabbits , Testosterone/biosynthesis , Water-Electrolyte Balance
18.
Ann Pediatr (Paris)
; 15(11): 706-15, 1968 Nov 02.
Article
in French
| MEDLINE
| ID: mdl-4889504
Subject(s)
Infant, Newborn, Diseases , Leukopenia/congenital , Lymphocytes , Transplantation Immunology , Blood Cell Count , Bone Marrow Cells , Bone Marrow Transplantation , Central Nervous System/pathology , Germ-Free Life , Glucocorticoids/therapeutic use , Histocompatibility Testing , Humans , Hypersensitivity/etiology , Infant, Newborn , Leukopenia/complications , Leukopenia/diagnosis , Leukopenia/therapy , Lymphoid Tissue/pathology , Male , Skin/pathology , Transplantation, Homologous
19.
Ann Pediatr (Paris)
; 15(3): 194-207, 1968 Mar 02.
Article
in French
| MEDLINE
| ID: mdl-5744292
20.
Bull Mem Soc Med Hop Paris
; 119(3): 295-312, 1968.
Article
in French
| MEDLINE
| ID: mdl-5703993