1.
Acta Paediatr Scand
; 67(1): 113-9, 1978 Jan.
Article
in English
| MEDLINE
| ID: mdl-626064
ABSTRACT
A case of Farber's disease associated with athyreosis is reported in a Belgian infant born from consanguineous parents. A detailed clinical observation made from the early onset of symptoms until death of the patient at age of 22 months, together with radiological, morphological and biochemical data confirmed the diagnosis of Farber's disease and its specific storage process. Cultured fibroblast studies disclosed an abnormal catabolism of ceramides, presumably related to the deficiency in lysosomal ceramidase. Family history confirms that the disease is inherited as an autosomal recessive trait.
Subject(s)
Lipidoses/congenital , Ceramides/metabolism , Consanguinity , Elbow Joint/diagnostic imaging , Female , Humans , Infant , Infant, Newborn , Intellectual Disability , Joint Diseases/congenital , Lung/diagnostic imaging , Lung/pathology , Pedigree , Radiography , Respiratory Distress Syndrome, Newborn , Syndrome
2.
Biomedicine
; 20(6): 398-407, 1974 Nov.
Article
in English
| MEDLINE
| ID: mdl-4141904
Subject(s)
Eicosanoic Acids/metabolism , Phytanic Acid/metabolism , Refsum Disease/metabolism , Adult , Arachidonic Acids/metabolism , Cholesterol/metabolism , Fatty Acids/blood , Fatty Acids/metabolism , Fatty Acids/urine , Female , Humans , Kidney/metabolism , Linoleic Acids/metabolism , Lipid Metabolism , Liver/metabolism , Myocardium/metabolism , Phospholipids/metabolism , Triglycerides/metabolism
3.
Bull Acad R Med Belg
; 13(9): 733-62, 1974 Oct.
Article
in French
| MEDLINE
| ID: mdl-4479365
Subject(s)
Lipidoses/congenital , Autopsy , Consanguinity , Female , Histiocytes/pathology , Humans , Infant , Infant, Newborn , Intellectual Disability , Intestine, Small/pathology , Joint Diseases/congenital , Joint Diseases/pathology , Lipidoses/pathology , Lung/pathology , Lung/ultrastructure , Respiratory Distress Syndrome, Newborn/pathology , Spleen/pathology , Syndrome , Thymus Gland/pathology , Thymus Gland/ultrastructure
4.
Acta Neuropathol
; 23(2): 118-32, 1973 Jan 30.
Article
in English
| MEDLINE
| ID: mdl-4349527
Subject(s)
Gangliosides/metabolism , Hexosaminidases/metabolism , Lipidoses/enzymology , Biopsy , Brain Chemistry , Child , Chromatography, Thin Layer , Endothelium/enzymology , Frontal Lobe/enzymology , Histocytochemistry , Humans , Inclusion Bodies/analysis , Kupffer Cells/enzymology , Lipidoses/pathology , Lipids/analysis , Liver/enzymology , Lysosomes/enzymology , Microscopy, Electron , Neuroglia/enzymology , Neurons/enzymology
5.
Rev Eur Etud Clin Biol
; 17(1): 86-92, 1972 Jan.
Article
in English
| MEDLINE
| ID: mdl-5041352
Subject(s)
Diffuse Cerebral Sclerosis of Schilder/metabolism , Lipid Metabolism , Brain Chemistry , Ceramides/urine , Cholesterol/analysis , Chromatography, Gas , Diffuse Cerebral Sclerosis of Schilder/urine , Fatty Acids/analysis , Female , Gangliosides/analysis , Humans , Kidney/analysis , Lipids/urine , Liver/analysis , Male , Phospholipids/analysis , Phospholipids/urine , Sphingomyelins/analysis , Sulfoglycosphingolipids/urine , Triglycerides/analysis
6.
Clin Chim Acta
; 33(2): 387-94, 1971 Jul.
Article
in French
| MEDLINE
| ID: mdl-5119314
Subject(s)
Glycolipids/metabolism , Lipid Metabolism, Inborn Errors/urine , Cerebrosides/analysis , Cerebrosides/urine , Child , Chromatography , Chromatography, Gas , Chromatography, Ion Exchange , Chromatography, Paper , Chromatography, Thin Layer , Dialysis , Fatty Acids/analysis , Fatty Acids, Essential/analysis , Galactose/analysis , Glycolipids/urine , Humans , Kidney/analysis , Liver/analysis , Palmitic Acids/analysis , Sphingosine/analysis , Sulfur/analysis
7.
Lancet
; 1(7692): 205-6, 1971 Jan 30.
Article
in English
| MEDLINE
| ID: mdl-4099873
Subject(s)
Dextrothyroxine/therapeutic use , Hypercholesterolemia/drug therapy , Hypothyroidism/complications , Thyroiditis/complications , Adult , Aged , Autoimmune Diseases/complications , Autoimmune Diseases/metabolism , Cholesterol/blood , Clinical Trials as Topic , Coronary Disease/complications , Dextrothyroxine/administration & dosage , Diabetes Complications , Female , Humans , Hypercholesterolemia/complications , Hypothyroidism/metabolism , Middle Aged , Obesity/complications , Placebos , Thyroiditis/immunology , Thyroiditis/metabolism , Triglycerides/blood
8.
Arch Fr Pediatr
; 27(4): 447-8, 1970 Apr.
Article
in French
| MEDLINE
| ID: mdl-5421719
Subject(s)
Glycoside Hydrolases/metabolism , Lipidoses , Humans , Infant , Lipidoses/diagnosis , Lipidoses/metabolism , Lipidoses/pathology , Male
9.
Helv Paediatr Acta
; 24(5): 519-37, 1969 Oct.
Article
in English
| MEDLINE
| ID: mdl-4247654
10.
Rev Fr Etud Clin Biol
; 14(6): 568-74, 1969.
Article
in French
| MEDLINE
| ID: mdl-5824260
Subject(s)
Frontal Lobe/analysis , Gangliosides/analysis , Lipidoses/metabolism , Lipids/analysis , Liver/analysis , Brain Chemistry , Cholesterol/analysis , Chromatography, Paper , Chromatography, Thin Layer , Female , Glycerides/analysis , Glycolipids/analysis , Hexosamines/analysis , Humans , Indicators and Reagents , Infant , Neuraminic Acids/analysis , Phospholipids/analysis , Substantia Nigra/analysis
11.
J Pediatr
; 73(6): 860-74, 1968 Dec.
Article
in English
| MEDLINE
| ID: mdl-4972189
Subject(s)
Mucopolysaccharidosis I/metabolism , Mucopolysaccharidosis I/pathology , Biopsy , Brain/pathology , Brain Chemistry , Child, Preschool , Cholesterol/analysis , Cytoplasmic Granules , Female , Gangliosides/analysis , Glycolipids/analysis , Histocytochemistry , Humans , Lipids/analysis , Liver/chemistry , Liver/pathology , Male , Microscopy, Electron , Mitochondria , Neuroglia , Neurons/pathology , Organ Size , Phospholipids/analysis , Plasmalogens/analysis , Sphingomyelins/analysis , Triglycerides/analysis
12.
Helv Paediatr Acta
; 23(3): 269-86, 1968 Jun.
Article
in French
| MEDLINE
| ID: mdl-4177818
