Set of simple side-room urine tests for detection of inborn errors of metabolism.
作者信息
Buist N R
出版信息
Br Med J. 1968 Jun 22;2(5607):745-9. doi: 10.1136/bmj.2.5607.745.
Abstract
摘要
相似文献
1
Set of simple side-room urine tests for detection of inborn errors of metabolism.
Br Med J. 1968 Jun 22;2(5607):745-9. doi: 10.1136/bmj.2.5607.745.
2
Detection of inborn errors of metabolism.
CRC Crit Rev Clin Lab Sci. 1971;2(4):529-72. doi: 10.3109/10408367109151316.
3
[Systematic detection of hereditary metabolic encephalopathies].
Ann Pediatr (Paris). 1968 Oct 2;15(10):635-41.
4
A guide to screening newborn infants for inborn errors of metabolism.
J Pediatr. 1973 Mar;82(3):511-22. doi: 10.1016/s0022-3476(73)80136-2.
5
Screening tests and chromatography for the detection of inborn errors of metabolism.
Clin Chim Acta. 1972 Feb;36(2):309-13. doi: 10.1016/0009-8981(72)90004-6.
6
Urinary screening tests in the infant and young child.
Hum Pathol. 1971 Jun;2(2):309-20. doi: 10.1016/s0046-8177(71)80039-4.
7
Detection of metabolic disorders. Chromatographic procedures and interpretation of results.
Clin Chem. 1968 Nov;14(11):1033-65.
8
Investigation of ketoacidurias by two-dimensional paper chromatography.
J Clin Pathol. 1969 Jul;22(4):422-6. doi: 10.1136/jcp.22.4.422.
9
The critically ill child: acute metabolic disease in infancy and early childhood.
Pediatrics. 1970 Oct;46(4):620-6.
10
Massachusetts metabolic disorders screening program. I. Technics and results of urine screening.
Pediatrics. 1972 Jun;49(6):825-36.
引用本文的文献
1
Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause.
Sao Paulo Med J. 2001 Sep 6;119(5):160-4. doi: 10.1590/s1516-31802001000500002.
2
Aminoacidopathies in Andhra Pradesh; report of a screening programme.
J Inherit Metab Dis. 1982;5(4):211-4. doi: 10.1007/BF02179143.
3
Simple urine tests for screennng for inborn errors of metabolism.
Indian J Pediatr. 1970 Sep;37(272):487-91. doi: 10.1007/BF02801274.
4
Management of inherited metabolic disease.
Br Med J. 1972 May 6;2(5809):329-36. doi: 10.1136/bmj.2.5809.329.
5
GM1 gangliosidosis: clinical and laboratory findings in eight families.
Hum Genet. 1985;70(4):347-54. doi: 10.1007/BF00295376.
6
Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India.
J Med Genet. 1987 Jun;24(6):362-5. doi: 10.1136/jmg.24.6.362.
7
Screening for metabolic disorders in children--aminoacidopathies.
Indian J Pediatr. 1977 Feb;44(349):25-38. doi: 10.1007/BF02807281.
本文引用的文献
1
CHRONIC ACIDOSIS DUE TO AN ERROR IN LACTATE AND PYRUVATE METABOLISM. REPORT OF TWO CASES.
Pediatrics. 1964 Sep;34:346-56.
2
HYPERPROLINAEMIA AND HEREDITARY NEPHRITIS.
Lancet. 1964 Nov 21;2(7369):1075-9. doi: 10.1016/s0140-6736(64)92605-4.
3
APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES.
Lancet. 1964 Aug 1;2(7353):230-2. doi: 10.1016/s0140-6736(64)90183-7.
4
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
N Engl J Med. 1964 Jun 25;270:1378-83. doi: 10.1056/NEJM196406252702602.
5
Detection of metabolic disorders among mentally retarded children by means of paper spot tests.
Am J Ment Defic. 1962 Jan;66:555-60.
6
A rapid screening test for deficiency of plasma ceruloplasmin and its value in the diagnosis of Wilson's disease.
Am J Med. 1960 Apr;28:550-4. doi: 10.1016/0002-9343(60)90149-2.
7
A simple chromatographic screening test for the detection of galactosemia in newborn infants.
Pediatrics. 1967 Apr;39(4):608-10.
8
Screen tests for metabolic disorders in newborn infants.
J Fla Med Assoc. 1966 Dec;53(12):1190-4.
9
Urinary screening tests in the prevention of mental deficiency.
Can Med Assoc J. 1966 Jul 16;95(3):89-95.
Zotero 插件