Published in Br Med J (Clin Res Ed) on February 25, 1984
Congenital hypopituitarism and renal failure. Indian J Endocrinol Metab (2011) 0.75
Normative penile anthropometry in term newborns in Kumasi, Ghana: a cross-sectional prospective study. Int J Pediatr Endocrinol (2017) 0.75
Penile Length and Testicular Volume in Newborns. Indian J Pediatr (2016) 0.75
Letter: Penile size in the newborn infant. J Pediatr (1975) 1.28
Neonatal cholestasis and hypoglycemia: possible role of cortisol deficiency. J Pediatr (1981) 1.24
The role of gonadal steroids in sexual differentiation. Recent Prog Horm Res (1981) 1.11
Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: four cases secondary to hypothalamic hormone deficiencies. J Pediatr (1975) 1.10
Studies on human sexual development. III. Fetal pituitary and serum, and amniotic fluid concentrations of LH, CG, and FSH. J Clin Endocrinol Metab (1976) 1.06
Congenital absence of pituitary gland and adrenal hypoplasia. Arch Dis Child (1972) 0.92
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med (1996) 3.73
Measles campaign. BMJ (1995) 2.99
Serum concentrations of tumour necrosis factor alpha in childhood chronic inflammatory bowel disease. Gut (1991) 2.98
Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab (2008) 2.74
At the crossroads--neonatal detection of developmental dysplasia of the hip. J Bone Joint Surg Br (2000) 2.49
Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group. Arch Dis Child (1999) 2.39
Measles vaccination and Guillain-Barré syndrome. Lancet (1997) 2.36
Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess (1997) 2.20
Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child (1998) 2.12
Colonoscopic polypectomy in children. Br Med J (1980) 2.11
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
ESPE/LWPES consensus statement on diabetic ketoacidosis in children and adolescents. Arch Dis Child (2004) 2.01
Hyperinsulinaemic hypoglycaemia in small for dates babies. Arch Dis Child (1990) 1.86
Pancreatitis in patients with organic acidemias. J Pediatr (1994) 1.73
Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol. Br Med J (1977) 1.71
Cardiomyopathy in propionic acidaemia. Eur J Pediatr (1993) 1.70
Transsphenoidal resection in Cushing's disease: undetectable serum cortisol as the definition of successful treatment. Clin Endocrinol (Oxf) (1993) 1.69
Androgen secreting adrenocortical tumours. Arch Dis Child (1999) 1.67
Protracted diarrhoea of infancy: evidence in support of an autoimmune variant. Br Med J (Clin Res Ed) (1986) 1.55
Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia. Lancet (1984) 1.55
Clinical and endocrine features and long-term outcome of Graves' disease in early childhood. J Endocrinol Invest (2007) 1.54
Remission induced by an elemental diet in small bowel Crohn's disease. Arch Dis Child (1987) 1.53
The early detection and management of inborn errors presenting acutely in the neonatal period. Eur J Pediatr (1985) 1.53
Regional variations in medium-chain acyl-CoA dehydrogenase deficiency. Lancet (1995) 1.52
Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion. J Inherit Metab Dis (2002) 1.51
Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia. Lancet (1989) 1.50
Surgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood. Arch Dis Child (1992) 1.49
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency. Acta Paediatr (1995) 1.49
A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab (1996) 1.49
Recognition and early management of Reye's syndrome. Arch Dis Child (1986) 1.48
Obstacles to timely neonatal screening in North Thames. J Med Screen (1998) 1.47
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child (1998) 1.45
The effect of cessation of growth hormone (GH) therapy on bone mineral accretion in GH-deficient adolescents at the completion of linear growth. J Clin Endocrinol Metab (2003) 1.44
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet (1999) 1.42
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr (2000) 1.41
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest (1996) 1.40
Hypoglycaemia complicating feeding regimens for glycogen-storage disease. Lancet (1978) 1.39
Identification of olfactory dysfunction in carriers of X-linked Kallmann's syndrome. Clin Endocrinol (Oxf) (1994) 1.39
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr (1998) 1.39
Biotinidase deficiency: early neurological presentation. Dev Med Child Neurol (1994) 1.39
Bilateral testicular tumours in congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma. Clin Endocrinol (Oxf) (1989) 1.38
How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency? J Inherit Metab Dis (2004) 1.38
Plasma digoxin concentrations and urinary excretion during a 'simpler' regimen of infant digitalization. Arch Dis Child (1975) 1.38
Clinical events relating to intraventricular haemorrhage in the newborn. Arch Dis Child (1979) 1.37
Neurological implications of urea cycle disorders. J Inherit Metab Dis (2007) 1.36
Impaired endothelial function occurs in the systemic arteries of children with homozygous homocystinuria but not in their heterozygous parents. J Am Coll Cardiol (1993) 1.35
Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis (2008) 1.34
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child (1999) 1.32
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest (1987) 1.32
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet (1995) 1.32
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet (1998) 1.28
Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology (1994) 1.28
Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res (2008) 1.26
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res (1991) 1.25
Sources of propionate in inborn errors of propionate metabolism. Metabolism (1990) 1.25
Neurologic outcome of propionic acidemia. Pediatr Neurol (1992) 1.24
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet (1993) 1.23
Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child (1992) 1.22
Maternal varicella infection as a cause of fetal malformations. Lancet (1973) 1.22
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am J Hum Genet (1999) 1.20
Use of biochemical profile in children's hospital: results of two controlled trials. Br Med J (1975) 1.20
Outcome of maple syrup urine disease. Arch Dis Child (1982) 1.20
Insulin-like growth factor I gene deletion causing intrauterine growth retardation and severe short stature. Acta Paediatr Suppl (1997) 1.19
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J Clin Invest (1996) 1.18
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Embryology of the adrenal glands and its relevance to diagnostic imaging. Clin Radiol (2005) 1.15
Late onset ornithine carbamoyl transferase deficiency in males. Arch Dis Child (1988) 1.15
Specific autoantibodies to gut epithelium in two infants with severe protracted diarrhoea. J Pediatr Gastroenterol Nutr (1985) 1.15
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology (1988) 1.15
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet (1993) 1.14
Acceleration of linear growth following intestinal resection for Crohn disease. Eur J Pediatr (1990) 1.14
Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy. Lancet (1987) 1.12
Impaired neurotransmitter amine metabolism in arginase deficiency. J Neurol Neurosurg Psychiatry (1985) 1.11
Analysis of tidal breathing parameters in infancy: how variable is TPTEF:TE? Am J Respir Crit Care Med (1994) 1.09
Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. Arch Dis Child (1996) 1.08
The management and long term outcome of organic acidaemias. J Inherit Metab Dis (1984) 1.08
Long-term follow-up of children with familial hypercholesterolaemia treated with cholestyramine. Lancet (1980) 1.08
Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol (1996) 1.07
Screening for familial hyper-beta-lipoproteinaemia in children in hospital. Arch Dis Child (1976) 1.07
Assessment of the reliability of school nurse height measurements in an inner-city population. (The Hackney Growth Initiative). Child Care Health Dev (1993) 1.06
Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet (1997) 1.06
Clinical diversity of pyruvate dehydrogenase deficiency. Pediatr Neurol (1994) 1.06
Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr (1989) 1.05
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate. J Inherit Metab Dis (1998) 1.05
Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr (1998) 1.05
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.05
Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90. Arch Dis Child (1993) 1.05
Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr (1991) 1.04
Comparisons in the epidemiology, diagnostic features and cure rate by transsphenoidal surgery between paediatric and adult-onset Cushing's disease. Eur J Endocrinol (2011) 1.04
Delayed puberty and response to testosterone in a rat model of colitis. Am J Physiol Regul Integr Comp Physiol (2001) 1.04
Hepatic imaging with computed tomography of chronic tyrosinaemia type 1. Br J Radiol (1990) 1.04
Defects in growth hormone receptor signaling. Trends Endocrinol Metab (2007) 1.04
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res (1993) 1.03
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child (1998) 1.03
Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia. Proc R Soc Med (1972) 1.03
Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy. Arch Dis Child (1980) 1.02
Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. Genomics (1994) 1.02