Physician
Medical Genetics
Neil R. Buist, MB CHB
|
|
Give Review
Neil Buist practices Medical Genetics. Neil R. Buist, MB CHB is also a published MD. He has 100 publication published. The most recent publication is: Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
Publications
- IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
- Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
- The effect of diazoxide in children with islet cell adenomas.
- Isolated persistent hypermethioninemia.
- Insulin values of normal pancreatic and pancreatic adenomas tissue extracts in children.
- Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
- Long-term follow-up of a cohort of children with alpha-1-antitrypsin deficiency.
- Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?
- Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding.
- Novel mutations in 13 probands with galactokinase deficiency.
- Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilo...
- X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
- Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
- Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials.
- Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
- Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.
- A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.
- A clinical approach to inborn errors of metabolism.
- A woman with bone pain, fractures, and malabsorption.
- Early copper therapy in classic Menkes disease patients with a novel splicing mutation.
- Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia.
- Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.
- Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency.
- Case 49-1993: cystic fibrosis.
- Letter: Follow-up screening for phenylketonuria.
- Letter: Deliberate injury of children.
- The separation of peptides from amino acids by ligand-exchange chromatography.
- Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.
- Further studies on a patient with iminodipeptiduria: a probable case of prolidase deficiency.
- Blue diapers caused by pyocyanin produced by P. aeruginosa.
- Letter: Serum hexosaminidase content in I-cell disease.
- The origin of urinary p-hydroxyphenylpyruvate in a patient with hepatic cytosol tyrosine aminotransferase deficiency.
- The source of aromatic ketoacids in tyrosinaemia and phenylketonuria.
- Vitamin D-resistant rickets and parathyroid adenomas: renal transport of phosphate.
- Neonatal islet cell adenoma: case report and literature review.
- The insulin-glucose ration in children with islet cell tumors of the pancreas.
- Folinic acid responsive seizures: a new syndrome?
- Perspective from Khao-I-Dang refugee camp.
- Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
- Amino acids as substrates in children with growth hormone deficiency and hypoglycemia.
- Genetic diseases among Kampuchean refugees.
- Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis.
- An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.
- Gyrate atrophy of the choroid and retina. Approaches to therapy.
- Nutrient and mineral retention and vitamin D absorption in low-birth-weight infants: effect of medium-chain triglycerides.
- Intermittent hypermethioninaemia associated with normal hepatic methionine adenosyltransferase activity: report of a case.
- Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate?
- Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.
- Recurrent sepsis with deficiencies of C2 and galactokinase.
- 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.
- Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis.
- Ophthalmic manifestations of infantile phytanic acid storage disease.
- Fatal benzyl alcohol poisoning in a neonatal intensive care unit.
- Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.
- The separation of peptides from amino acids in urine by ligand exchange chromatography.
- Familial haemophagocytic reticulosis.
- Homoargininosuccinic acid synthesis by an enzyme from pig kidney.
- Analysis of dentine pathogenesis in vitamin D--resistant rickets.
- Copper poppers: a benign cause of blue diapers.
- Rapid column-chromatographic measurement of orotic acid.
- Familial haemophagocytic reticulosis in first cousins.
- Amniocentesis for antenatal diagnosis of genetic disorders.
- Letter: Ketotic hypoglycaemia.
- Citrullinemia: investigation and treatment over a four-year period.
- Congenital islet cell adenoma causing hypoglycemia in a newborn.
- A guide to screening newborn infants for inborn errors of metabolism.
- Set of simple side-room urine tests for detection of inborn errors of metabolism.
- Eye and skin lesions in tyrosinaemia.
- Heparin and false-positive tests for mucopolysacchariduria.
- Violent parents.
- Excretion of -N-acetylcitrulline in citrullinaemia.
- Use of Toluidine Blue for sequential staining of urinary amino acid chromatograms.
- The EEGs of infants with citrullinemia.
- Perspective from a Sudanese refugee camp.
- Prenatal diagnosis of cystinosis utilizing chorionic villus sampling.
- Absorption of individual fatty acids from long chain or medium chain triglycerides in very small infants.
- Computerized surveillance of errors in newborn screening practice.
- Pacific northwest regional newborn screening: a paradigm of prevention.
- Interference by third-generation cephalosporins with neonatal screening for galactosemia.
- Flocculation and precipitation of insulin.
- Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.
- Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.
- Metabolic myopathies: evaluation by graded exercise testing.
- Nutritional balance studies of VLBW infants fed their mothers' milk fortified with a liquid human milk fortifier.
- Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
- Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.
- Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
- Proficiency testing for biochemical genetics laboratories: the first 10 rounds of testing.
- Late presenting, prolonged hypocalcemia in an infant of a woman with hypocalciuric hypercalcemia.
- Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation.
- Verbal dyspraxia in treated galactosemia.
- Long-term prognosis in galactosaemia: results of a survey of 350 cases.
- The practitioner's role in newborn screening.
- A prospective evaluation of the lecithin/sphingomyelin ratio and the rapid surfactant test in relation to fetal pulmonary maturity.
- Citrullinemia: enzymatic evidence for genetic heterogeneity.
- Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.
- Transient neonatal hypothyroidism detected by newborn screening program.
- Mannosidosis in three brothers--a review of the literature.
- Serum hexosaminidase activity in I-cell disease carriers.
Schools
UNIVERSITY OF SAINT ANDREWS THE MEDICAL SCHOOL
University St Andrews
Doctors Specialties
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Education
-
University of Colorado
Helpful Reviews
Similar Doctors
|
|
Dr. Peter Jacky, PHD
 This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Susan Hayflick, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Jacob A. Reiss, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. David M. Koeller, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Alan F. Rope, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Lori G. Hankenson, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Jonathan Zonana, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. William A. Horton, MD |
|
|
Dr. Robb E. Moses, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. George Anadiotis, DO
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Jone E. Sampson, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Stephen W. Moore |