Published in Ann Clin Biochem on November 01, 1982
Diagnosis and management of inborn errors of metabolism. Arch Dis Child (1989) 1.03
Clinical biochemistry of the neonatal period: immaturity, hypoxia, and metabolic disease. J Clin Pathol (1987) 0.77
ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. J Clin Pathol (1989) 0.77
Neonatal hyperbilirubinaemia and breast feeding. Dev Med Child Neurol (1966) 2.23
The effect of pregnanediol and pregnanediol glucuronide on bilirubin conjugation by rat liver slices. Clin Sci (1965) 1.47
Diagnosis of classical galactosaemia. Arch Dis Child (1977) 1.32
A case of histidinemia controlled with a low histidine diet. Pediatrics (1968) 1.28
The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child (2000) 1.18
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child (1981) 1.13
Adjuvant properties of bacterial cell wall mucopeptides. J Immunol (1966) 1.09
Histidinaemia. Biochem J (1969) 1.05
Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90. Arch Dis Child (1993) 1.05
Breast milk bilirubin conjugation inhibitors in neonatal hyperbilirubinaemia. Arch Dis Child (1972) 1.00
Factors determining blood phenylalanine in the neonatal period. Clin Chim Acta (1975) 1.00
Evidence for galactosaemia in utero. Lancet (1980) 0.99
Histidinaemia: a child and his family. Arch Dis Child (1968) 0.99
Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child (1999) 0.99
Inhibition of bilirubin conjugation in rat liver slices by free fatty acids, with relevance to the problem of breast milk jaundice. Clin Chim Acta (1972) 0.95
Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients. Ann Clin Biochem (1990) 0.94
An intravenous histidine load test for the detection of heterozygotes for histidinaemia. Clin Chim Acta (1971) 0.93
Genetic analysis of treated and untreated phenylketonuria in one family. J Med Genet (1990) 0.92
Assessment of foetal lung maturity by amniotic fluid fatty acid analysis. Clin Chim Acta (1973) 0.92
Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia. N Engl J Med (1986) 0.92
UDP-glucose and UDP-galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia. J Inherit Metab Dis (1994) 0.91
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inherit Metab Dis (1983) 0.90
Prenatal diagnosis of galactosemia. Eur J Pediatr (1995) 0.89
Maple syrup urine disease. Four years' experience with dietary treatment of a case. Acta Paediatr Scand (1969) 0.87
Seasonal changes in perinatal vitamin D metabolism: maternal and cord blood biochemistry in normal pregnancies. Arch Dis Child (1981) 0.87
Prenatal determination of uridine diphosphate galactose-4-epimerase activity. Prenat Diagn (1983) 0.84
First-trimester diagnosis of galactosaemia. Lancet (1986) 0.83
Galactose-1-phosphate uridyltransferase in cultured cells. Clin Chim Acta (1976) 0.83
Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. J Med Genet (1991) 0.82
Assessment of fetal lung maturity by estimation of amniotic fluid palmitic acid. Br Med J (1974) 0.82
Gas-liquid chromatographic determination of galactitol in amniotic fluid for possible use in prenatal diagnosis of galactosaemia. Clin Chim Acta (1981) 0.82
In vitro inhibition of serotonin and gamma-aminobutyric acid synthesis in rat brain by histidine metabolites. Brain Res (1970) 0.81
Effects of long-term microdosage of norgestrel on glucose tolerance and serum transaminase levels. J Reprod Fertil (1970) 0.80
The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia. Clin Chim Acta (1993) 0.80
Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria. Eur J Pediatr (1993) 0.79
Determination of platelet serotonin by a fluorimetric method. Clin Chim Acta (1970) 0.79
Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations. J Inherit Metab Dis (1999) 0.79
The effect of high concentrations of histidine on the level of other amino acids in plasma and brain of the mature rat. J Neurochem (1976) 0.78
Major lipids of non-myelinated (olfactory) and myelinated (trigeminal) nerve of garfish, Lepisosteus osseus. Biochim Biophys Acta (1971) 0.77
Arginosuccinate synthetase deficiency: good outcome despite severe neonatal hyperammonaemia. J Inherit Metab Dis (1992) 0.76
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. J Inherit Metab Dis (1988) 0.75
An assessment of an automated fluorimetric blood phenylalanine technique for phenylketonuria screening and for accurate estimations. J Clin Pathol (1970) 0.75
Large-scale investigation of 2 phenylketonuria screening methods and factors affecting blood phenylalanine levels in the newborn. Arch Dis Child (1973) 0.75
Phenylalanine and tyrosine levels in newborn screening blood samples. Arch Dis Child (1983) 0.75
Galactosaemia. Lancet (1995) 0.75
Placental steroid sulphatase deficiency. Arch Dis Child (1984) 0.75
Immediate mandibular replacement with stainless steel mesh prosthesis: report of case. J Oral Surg (1971) 0.75
Red-blue lesion of the hard palate. J Oral Maxillofac Surg (1997) 0.75
Amino acid changes associated with febrile illness in a case of histidinaemia and in other children. Clin Sci (1968) 0.75
The effect of a histidine load on plasma levels and renal clearances of other amino acids. Clin Chim Acta (1968) 0.75
Alterations in sulphur-containing amino acids in rat brain extracts on storage. Clin Chim Acta (1973) 0.75
The ammonia checker. Ann Clin Biochem (1984) 0.75
Severe neonatal galactose-dependent disease with low-normal epimerase activity. J Inherit Metab Dis (1995) 0.75
A loophole in the phenylketonuria screening programme. Lancet (1984) 0.75
A modified method for the estimation of galactose-1-phosphate. Ann Clin Biochem (1986) 0.75
The effect of an intravenous histidine load on the plasma level of other amino acids. Clin Chim Acta (1972) 0.75
Screening for neural tube defects. Lancet (1980) 0.75
The biochemical detection of inherited diseases. Bristol Med Chir J (1966) 0.75
Extra heating of amino acids. Clin Chim Acta (1985) 0.75
Inborn errors of metabolism and unexpected infant deaths. Lancet (1988) 0.75