G. Gray

发表

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Hanlin Gao, L. Brueton, A. Chakrapani, 2006, American journal of medical genetics. Part A.

Long-range PCR.

G. Gray, P. A. Davies, 2002, Methods in molecular biology.

Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease.

M. Preece, A. Green, A. Hutchesson, 1997, Clinical chemistry.

Non-specific interference in the measurement of plasma ammonia: importance of using a sample blank

Donna Fullerton, T. Hutchin, G. Gray, 2010, Annals of clinical biochemistry.

Prospective treatment in carnitine–acylcarnitine translocase deficiency

C. Hendriksz, A. Chakrapani, M. Preece, 2007, Journal of Inherited Metabolic Disease.

X‐linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

A. Ballabio, N. Brunetti‐Pierri, G. Meroni, 2002, American journal of medical genetics. Part A.

Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.

A Green, R. Pollitt, A. Green, 1997, Clinical chemistry.

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

S. Cederbaum, W. Nyhan, J. Girard, 2002, Human Genetics.

Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses - an evaluation

L. Jenkinson, A. Green, P. Claridge, 2007, Annals of clinical biochemistry.

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

S. Ball, G. Morrow, R. Tanguay, 2015, JIMD reports.

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

L. Jenkinson, J. Ruel, I. Verma, 2006, Indian journal of pediatrics.

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

T. Coşkun, H. Rootwelt, R. Berger, 1994, American journal of human genetics.

‘Transient cytochrome oxidase deficiency with Ohtahara syndrome’

P. Ramani, W. Whitehouse, K. Poulton, 2000, Developmental medicine and child neurology.