BIOMAT Database Logo BIOMAT Database Logo

Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle. 1988

C Reuschenbach, and S Zierz
Neurologische Universitätsklinik, Bonn, West Germany.

UI MeSH Term Description Entries
D008297 Male Males
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D009212 Myoglobinuria The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis. Myoglobinurias
D009709 Nucleotide Deaminases Catalyze the hydrolysis of nucleotides with the elimination of ammonia. Deaminases, Nucleotide
D002334 Carnitine O-Palmitoyltransferase An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. EC 2.3.1.21. Carnitine Palmitoyltransferase,CPT II,Carnitine Acyltransferase I,Carnitine Palmitoyltransferase I,Carnitine Palmitoyltransferase II,Palmitoylcarnitine Transferase,Palmitylcarnitine Acyltransferase,Acyltransferase I, Carnitine,Acyltransferase, Palmitylcarnitine,Carnitine O Palmitoyltransferase,II, Carnitine Palmitoyltransferase,O-Palmitoyltransferase, Carnitine,Palmitoyltransferase I, Carnitine,Palmitoyltransferase II, Carnitine,Palmitoyltransferase, Carnitine,Transferase, Palmitoylcarnitine
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

C Reuschenbach, and S Zierz
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.
January 1979, Journal of the neurological sciences,
C Reuschenbach, and S Zierz
Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle.
October 1990, Clinica chimica acta; international journal of clinical chemistry,
C Reuschenbach, and S Zierz
Carnitine acyltransferases in normal human skeletal muscle and in muscle of patients with carnitine palmitoyltransferase deficiency.
January 1991, Neuromuscular disorders : NMD,
C Reuschenbach, and S Zierz
Deficiency of carnitine palmitoyltransferase in transformed lymphoblasts from a patient having a deficiency of carnitine palmitoyltransferase in skeletal muscle.
May 1980, Biochemical and biophysical research communications,
C Reuschenbach, and S Zierz
Myoadenylate deaminase deficiency.
January 1979, Muscle & nerve,
C Reuschenbach, and S Zierz
[Myoadenylate deaminase deficiency].
January 1998, Ryoikibetsu shokogun shirizu,
C Reuschenbach, and S Zierz
[Myoadenylate deaminase deficiency].
January 2001, Ryoikibetsu shokogun shirizu,
C Reuschenbach, and S Zierz
Myoadenylate deaminase deficiency.
November 1987, Klinische Wochenschrift,
C Reuschenbach, and S Zierz
Myoadenylate deaminase deficiency.
April 1986, Klinische Wochenschrift,
C Reuschenbach, and S Zierz
Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.
May 1985, European journal of biochemistry,
Copied contents to your clipboard!