1.
Pediatrics
; 52(1): 83-94, 1973 Jul.
Article
in English
| MEDLINE
| ID: mdl-4125080
Subject(s)
Leucine , Valerates , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acid Metabolism, Inborn Errors/therapy , Amino Acids/blood , Amino Acids/urine , Child , Child, Preschool , Developmental Disabilities/etiology , Diet Therapy , Fatty Acids/blood , Fatty Acids/cerebrospinal fluid , Fatty Acids/urine , Female , Glycine/urine , Humans , Infant, Newborn , Intellectual Disability/etiology , Intelligence Tests , Male , Odorants , Pedigree , Valerates/cerebrospinal fluid , Valerates/urine
2.
J Neurochem
; 20(4): 963-8, 1973 Apr.
Article
in English
| MEDLINE
| ID: mdl-4697895
Subject(s)
Animals, Newborn/metabolism , Brain/metabolism , Sphingomyelins/metabolism , Sphingosine/biosynthesis , Vitamin B Deficiency/metabolism , Animals , Body Weight , Carbon Isotopes , Cerebrosides/analysis , Chromatography, Gas , Chromatography, Thin Layer , Fatty Acids/analysis , Female , Organ Size , Phospholipids/analysis , Pregnancy , Pyridoxine/analysis , Rats , Serine/metabolism , Sphingolipids/metabolism
3.
J Nutr
; 102(2): 291-8, 1972 Feb.
Article
in English
| MEDLINE
| ID: mdl-5008749
Subject(s)
Amino Acids/metabolism , Brain/metabolism , Lipid Metabolism , Vitamin B 6 Deficiency/metabolism , Animal Nutritional Physiological Phenomena , Animals , Animals, Newborn , Body Weight , Brain/anatomy & histology , Carbon Isotopes , Cerebrosides/metabolism , Cystathionine/metabolism , Female , Gangliosides/metabolism , Organ Size , Phospholipids/metabolism , Plasmalogens/metabolism , Pregnancy , Pyridoxine/metabolism , Rats , Sphingolipids/metabolism , Sphingomyelins/metabolism , Sulfoglycosphingolipids/metabolism , Tyrosine , Tyrosine Decarboxylase
4.
J Neurochem
; 18(11): 2235-6, 1971 Nov.
Article
in English
| MEDLINE
| ID: mdl-5129355
Subject(s)
Brain/metabolism , Coenzymes/metabolism , Dihydroxyphenylalanine/pharmacology , Parkinson Disease/drug therapy , Pyridoxal Phosphate/metabolism , Animals , Carboxy-Lyases/metabolism , Cerebral Cortex/metabolism , Dihydroxyphenylalanine/metabolism , Dopamine/metabolism , Glutamates/metabolism , Rats
5.
Clin Chim Acta
; 34(3): 463-6, 1971 Oct.
Article
in English
| MEDLINE
| ID: mdl-5119340
6.
Science
; 168(3928): 259-60, 1970 Apr 10.
Article
in English
| MEDLINE
| ID: mdl-5418646
ABSTRACT
The activity of several acid hydrolase enzymes was determined in whole brain homogenates of adult "quaking" and normal mice. A striking decrease was found in alpha-mannosidase and, to a lesser extent, aryl sulfatase levels in the samples from the mutant animals. The activities of the other "lyso-somal" enzymes were only slightly lowered.
