Published in BMJ Case Rep on January 02, 2013
Pregnancy in women with inherited metabolic disease. Obstet Med (2015) 0.75
Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency. World J Hepatol (2017) 0.75
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A series of pregnancies in women with inherited metabolic disease. J Inherit Metab Dis (2011) 1.01
Ornithine transcarbamylase deficiency in pregnancy. J Inherit Metab Dis (2005) 1.00
A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy. Hepatology (1996) 0.93
Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency. Obstet Gynecol (2003) 0.89
Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol (2010) 0.89
A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate. Neurology (2000) 0.84
Peripartum management of two parturients with ornithine transcarbamylase deficiency. Int J Obstet Anesth (2011) 0.82
Assisted dying: a time for change. Br J Hosp Med (Lond) (2008) 2.66
Maternal mortality in the UK and the need for obstetric physicians. BMJ (2011) 2.51
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging (2013) 1.99
Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease. Heart (2012) 1.56
Adjuvant lithium improves the efficacy of radioactive iodine treatment in Graves' and toxic nodular disease. Clin Endocrinol (Oxf) (2012) 1.50
European evidenced-based consensus on reproduction in inflammatory bowel disease. J Crohns Colitis (2010) 1.45
The longest-surviving patient with classical maple syrup urine disease. J Inherit Metab Dis (2006) 1.41
Starvation ketoacidosis in pregnancy. Eur J Obstet Gynecol Reprod Biol (2012) 1.30
A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism. Mol Endocrinol (2007) 1.27
Case management and community matrons for long term conditions. BMJ (2004) 1.20
Diagnostic accuracy of placental growth factor in women with suspected preeclampsia: a prospective multicenter study. Circulation (2013) 1.19
Unique blood pressure characteristics in mother and offspring after early onset preeclampsia. Hypertension (2012) 1.02
A series of pregnancies in women with inherited metabolic disease. J Inherit Metab Dis (2011) 1.01
Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis (2013) 0.98
Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance. J Cardiovasc Magn Reson (2014) 0.97
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis (2015) 0.96
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet (2009) 0.95
Movement disorders in adult patients with classical galactosemia. Mov Disord (2013) 0.91
Investing in very young adolescents' sexual and reproductive health. Glob Public Health (2014) 0.87
Bridging disciplines, knowledge systems and cultures in pest management. Environ Manage (2014) 0.87
Distribution of actin gene isoforms in the Arabidopsis leaf measured in microsamples from intact individual cells. Planta (2002) 0.86
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers. J Gastroenterol (2013) 0.86
Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. Europace (2011) 0.84
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. Mov Disord (2012) 0.82
Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease. Am J Cardiol (2012) 0.82
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat (2012) 0.81
Movement disorders in adult surviving patients with maple syrup urine disease. Mov Disord (2011) 0.80
In vivo and in vitro studies of GAD-antibody positive subjects with Type 2 diabetes: A distinct sub-phenotype. Diabetes Res Clin Pract (2008) 0.79
A retrospective assessment of the effectiveness of fenofibrate 267 mg on high-density lipoprotein cholesterol levels in patients attending a lipid clinic. Clin Ther (2002) 0.79
Pregnancy and its management in women with GSD type III - a single centre experience. J Inherit Metab Dis (2011) 0.79
Bone turnover and bone mineral density are independently related to selenium status in healthy euthyroid postmenopausal women. J Clin Endocrinol Metab (2012) 0.78
Cardiac disease in pregnancy. Clin Med (2012) 0.78
Prescribing in pregnancy and during breast feeding: using principles in clinical practice. Postgrad Med J (2011) 0.77
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time. J Inherit Metab Dis (2011) 0.77
Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease. J Am Coll Cardiol (2011) 0.77
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? J Neurol (2014) 0.76
Disorders of calcium metabolism. Practitioner (2006) 0.76
Diagnostic Biomarkers in Women With Suspected Preeclampsia in a Prospective Multicenter Study. Obstet Gynecol (2016) 0.75
Cello scrotum confession. Murphy's lore. BMJ (2009) 0.75
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy. JIMD Rep (2015) 0.75
Assessment of mitochondrial electron transport chain function in a primary astrocyte cell model of hyperhomocystinaemia. Toxicol Mech Methods (2013) 0.75
Interpretation of the short Synacthen test in the presence of low cortisol-binding globulin: two case reports. Ann Clin Biochem (2006) 0.75
The new Poor Law guardians and the administration of insanity in East London, 1834-1844. Bull Hist Med (2003) 0.75
New mental health strategy. Uncosted, unrealistic strategy. BMJ (2011) 0.75
Twenty years on. Int J Geriatr Psychiatry (2006) 0.75