1.
Am J Dis Child
; 130(3): 305-7, 1976 Mar.
Article
in English
| MEDLINE
| ID: mdl-1258840
ABSTRACT
Ataxia telangiectasia has been associated with varying clinical and laboratory abnormalities of the cutaneous, immune, neurological, and endocrine systems. Recently, a primary defect in tissue differentiation has been proposed as a probable cause of the disease. The presence of biochemically abnormal collagen in the skin of two siblings with the disease may further support this hypothesis.
Subject(s)
Ataxia Telangiectasia/etiology , Collagen Diseases/complications , Collagen/analysis , Amino Acids/analysis , Ataxia Telangiectasia/complications , Ataxia Telangiectasia/genetics , Female , Humans , Hydroxylysine/deficiency , Immunologic Deficiency Syndromes/etiology , Skin/analysis
2.
Del Med J
; 47(4): 181-6, 1975 Apr.
Article
in English
| MEDLINE
| ID: mdl-1123096
3.
J Tenn Med Assoc
; 68(1): 17-8, -25, 1975 Jan.
Article
in English
| MEDLINE
| ID: mdl-1113528
4.
Postgrad Med
; 55(4): 201-2, 1974 Apr.
Article
in English
| MEDLINE
| ID: mdl-4818956
5.
Am J Dis Child
; 127(4): 566-70, 1974 Apr.
Article
in English
| MEDLINE
| ID: mdl-4821323
Subject(s)
Chlorides/metabolism , Diarrhea, Infantile/congenital , Bicarbonates/blood , Biopsy , Chlorides/blood , Chlorides/urine , Diarrhea, Infantile/drug therapy , Diarrhea, Infantile/metabolism , Feces/analysis , Female , Humans , Hydrogen-Ion Concentration , Hyperplasia , Infant , Juxtaglomerular Apparatus/pathology , Potassium/blood , Potassium/urine , Potassium Chloride/administration & dosage , Potassium Chloride/therapeutic use , Sodium/blood , Sodium/urine , Sodium Chloride/administration & dosage , Sodium Chloride/therapeutic use
6.
J Tenn Med Assoc
; 67(2): 117-20, 1974 Feb.
Article
in English
| MEDLINE
| ID: mdl-4816033
7.
Am J Dis Child
; 126(6): 779-82, 1973 Dec.
Article
in English
| MEDLINE
| ID: mdl-4759365
Subject(s)
Disease Outbreaks/epidemiology , Rocky Mountain Spotted Fever/epidemiology , Adolescent , Blood Cell Count , Blood Coagulation Tests , Child , Child, Preschool , Chloramphenicol/therapeutic use , Female , Humans , Male , Prothrombin Time , Rocky Mountain Spotted Fever/blood , Rocky Mountain Spotted Fever/cerebrospinal fluid , Rocky Mountain Spotted Fever/diagnosis , Rocky Mountain Spotted Fever/drug therapy , Tennessee , Time Factors
8.
J Tenn Med Assoc
; 66(11): 1045-7, 1973 Nov.
Article
in English
| MEDLINE
| ID: mdl-4148304