scholarly journals Transferase Deficiency Galactosemia

2020 ◽  
Author(s):  
Keyword(s):  
Transferase Deficiency

Neuropathologic changes in ornithine carbamoyl transferase deficiency

1986 ◽  
Vol 109 (6) ◽  
pp. 1074 ◽  
Author(s):  
J.V. Leonard ◽  
M.E. Pembrey ◽  
C.A. Oley ◽  
B.N. Harding
Keyword(s):  
Ornithine Carbamoyl Transferase ◽  
Transferase Deficiency

Demonstration of T-Transferase Deficiency in Tn-Polyagglutinable Blood Samples

1978 ◽  
Vol 92 (1) ◽  
pp. 111-119 ◽  
Author(s):  
Jean-Pierre CARTRON ◽  
Georges ANDREU ◽  
Jeannine CARTRON ◽  
George W. G. BIRD ◽  
Charles SALMON ◽  
...  
Keyword(s):  
Blood Samples ◽  
Transferase Deficiency

A Mouse Model of Galactose-1-Phosphate Uridyl Transferase Deficiency

1996 ◽  
Vol 59 (1) ◽  
pp. 7-12 ◽  
Author(s):  
Nancy D. Leslie ◽  
Karen L. Yager ◽  
Pamela D. McNamara ◽  
Stanton Segal
Keyword(s):  
Mouse Model ◽  
Transferase Deficiency

MEUROLOGICAL FEATURES AND COMPUTED TOMOGRAPHY OF THE BRAIN IN CHILDREN WITH ORNI-THINE CARBAMOYL TRANSFERASE DEFICIENCY

1984 ◽  
Vol 8 (1) ◽  
pp. 190
Author(s):  
B. E. Kendall ◽  
D. P. E. Kingsley ◽  
J. V. Leonard ◽  
S. Lingam ◽  
V. G. Oberholzer
Keyword(s):  
Computed Tomography ◽  
Transferase Deficiency ◽  
The Brain

Fatal Rhabdomyolysis Following Influenza Infection in a Girl With Familial Carnitine Palmityl Transferase Deficiency

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 312-316
Author(s):  
Kevin J. Kelly ◽  
Jeffery S. Garland ◽  
Thomas T. Tang ◽  
Austin L. Shug ◽  
Michael J. Chusid
Keyword(s):  
Renal Failure ◽  
Muscle Biopsy ◽  
Influenza Infection ◽  
Influenza B ◽  
Preventative Measures ◽  
Life Threatening ◽  
Severe Hyperkalemia ◽  
History Of ◽  
Transferase Deficiency

Severe rhabdomyolysis following an influenza B infection developed in a previously well 13-year-old girl. There was no history of trauma. Her course was complicated by episodes of severe hyperkalemia, hypocalcemia, hyperphosphatemia, and myoglobinuria. Renal failure, hypertension, and life-threatening arrhythmias developed; she died. Muscle biopsy revealed that this girl had carnitine palmityl transferase deficiency. An asymptomatic sister was demonstrated to have the same disorder. Although carnitine palmityl transferase deficiency is usually associated with mild bouts of rhabdomyolysis that become apparent only in adulthood, severe forms of this disorder may be seen in children. Life-threatening rhabdomyolysis and myoglobinuria may follow any infection associated with decreased intake. If carnitine palmityl transferase deficiency is diagnosed in a proband, other siblings should be evaluated so that proper preventative measures can be undertaken to help prevent the development of symptoms in susceptible individuals who have not been recognized to have the disease.

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