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Literature DB >> 4380501

The screening of hereditary metabolic defects among newborn infants.

Abstract

THE PRESENT COMMUNCIATION DESCRIBES THE USE OF FOUR APPROACHES TO THE DETECTION OF HEREDITARY METABOLIC DISORDERS: (1) the bacterial inhibition assay, (2) the reduction of nicotinamide adenine dinucleotide phosphate (NADP), (3) the use of paper chromatography, and (4) other specific methods. Using small quantities of capillary blood or urine, practical and simple methods have been devised for the diagnosis of 30 inborn errors of metabolism through screening programs.

Entities: Chemical Disease Species

Mesh：

Substances：
NADP

Year: 1966 PMID： 4380501 PMCID： PMC1935513

Source DB: PubMed Journal: Can Med Assoc J ISSN： 0008-4409 Impact factor: 8.262

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References

25 in total

1. Primaquine sensitivity. Glucose-6-phosphate dehydrogenase deficiency: an inborn error of metabolism of medical and biological significance.

Authors: A R TARLOV; G J BREWER; P E CARSON; A S ALVING
Journal: Arch Intern Med Date: 1962-02

2. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia.

Authors: K R TANAKA; W N VALENTINE; S MIWA
Journal: Blood Date: 1962-03 Impact factor: 22.113

3. A familial disturbance of histidine metabolism.

Authors: H GHADIMI; M W PARTINGTON; A HUNTER
Journal: N Engl J Med Date: 1961-08-03 Impact factor: 91.245

4. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

Authors: J D ALLAN; D C CUSWORTH; C E DENT; V K WILSON
Journal: Lancet Date: 1958-01-25 Impact factor: 79.321

5. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.

Authors: D N BARON; C E DENT; H HARRIS; E W HART; J B JEPSON
Journal: Lancet Date: 1956-09-01 Impact factor: 79.321

The screening of hereditary metabolic defects among newborn infants.

1. Primaquine sensitivity. Glucose-6-phosphate dehydrogenase deficiency: an inborn error of metabolism of medical and biological significance.

2. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia.

3. A familial disturbance of histidine metabolism.

4. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

5. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.

6. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

7. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

8. A new type of idiopathic hyperglycinemia with hypo-oxaluria.

9. Cystic fibrosis of the pancreas.

10. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease).