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The relationship of genotype to cognitive outcome in galactosaemia

Archives of disease in childhood, 2000-09, Vol.83 (3), p.248-250

2000

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Generalised uridine diphosphate galactose-4-epimerase deficiency

Archives of disease in childhood, 1999-04, Vol.80 (4), p.374-376

1999

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Galactosaemia: pathogenesis and treatment

Journal of inherited metabolic disease, 1996-01, Vol.19 (1), p.3-7

Holton, J. B.

1996

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Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.139-148

1999

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Effects of galactosemia in utero

European journal of pediatrics, 1995-01, Vol.154 (7 Suppl 2), p.S77-S81

Holton, J B

1995

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Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90

Archives of disease in childhood, 1993-09, Vol.69 (3), p.339-341

1993

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Galactose disorders: An overview

Journal of inherited metabolic disease, 1990-07, Vol.13 (4), p.476-486

Holton, J. B.

1990

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Inherited metabolic diseases in the sudden infant death syndrome

Archives of disease in childhood, 1991-11, Vol.66 (11), p.1315-1317

1991

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Defective Galactosylation of Proteins in Cultured Skin Fibroblasts from Galactosaemic Patients

Annals of clinical biochemistry, 1990-05, Vol.27 (3), p.274-275

1990

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Galactosemia : the uridine diphosphate galactose deficiency-uridine treatment controversy

The Journal of pediatrics, 1993-12, Vol.123 (6), p.1009-1014

1993

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Prenatal diagnosis of galactosemia

European journal of pediatrics, 1995-01, Vol.154 (7 Suppl 2), p.S33-S36

1995

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UDP‐glucose and UDP‐galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.23-26

1994

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Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria

European journal of pediatrics, 1993-10, Vol.152 (10), p.822-827

1993

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Red-blue lesion of the hard palate

Journal of oral and maxillofacial surgery, 1997-02, Vol.55 (2), p.159-165

1997

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Paediatric Laboratory Medicine Fund of the Royal College of Pathologists

Archives of disease in childhood, 1991-10, Vol.66 (10), p.1262-1263

Holton, J B

1991

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Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England

Journal of medical genetics, 1991-04, Vol.28 (4), p.244-247

1991

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Clouds still gathering over galactosaemia

The Lancet (British edition), 1994-11, Vol.344 (8932), p.1242-1243

1994

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Registers for inherited metabolic diseases

Journal of inherited metabolic disease, 1987-12, Vol.10 (4), p.309-316

Holton, J. B.

1987

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Genetic analysis of treated and untreated phenylketonuria in one family

Journal of medical genetics, 1990-09, Vol.27 (9), p.564-568

1990

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Prenatal diagnosis of disorders of galactose metabolism

Journal of inherited metabolic disease, 1989-03, Vol.12 (1), p.202-206

1989

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Galactosaemia

The Lancet (British edition), 1995-03, Vol.345 (8949), p.581-581

1995

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A Modified Method for the Estimation of Galactose-1-Phosphate

Annals of clinical biochemistry, 1986-05, Vol.23 (3), p.325-328

1986

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Severe neonatal galactose‐dependent disease with low‐normal epimerase activity

Journal of inherited metabolic disease, 1995-01, Vol.18 (1), p.88-89

1995

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Early morning urine galactitol levels in relation to galactose intake: A possible method of monitoring the diet in galactokinase deficiency

Journal of inherited metabolic disease, 1988-06, Vol.11 (S2), p.243-245

1988

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The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia

Clinica chimica acta, 1993-11, Vol.221 (1), p.135-142

1993

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The relationship of genotype to cognitive outcome in galactosaemia

Generalised uridine diphosphate galactose-4-epimerase deficiency

Galactosaemia: pathogenesis and treatment

Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations

Effects of galactosemia in utero

Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90

Galactose disorders: An overview

Inherited metabolic diseases in the sudden infant death syndrome

Defective Galactosylation of Proteins in Cultured Skin Fibroblasts from Galactosaemic Patients

Galactosemia : the uridine diphosphate galactose deficiency-uridine treatment controversy

Prenatal diagnosis of galactosemia

UDP‐glucose and UDP‐galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia

Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria

Red-blue lesion of the hard palate

Paediatric Laboratory Medicine Fund of the Royal College of Pathologists

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England

Clouds still gathering over galactosaemia

Registers for inherited metabolic diseases

Genetic analysis of treated and untreated phenylketonuria in one family

Prenatal diagnosis of disorders of galactose metabolism

Galactosaemia

A Modified Method for the Estimation of Galactose-1-Phosphate

Severe neonatal galactose‐dependent disease with low‐normal epimerase activity

Early morning urine galactitol levels in relation to galactose intake: A possible method of monitoring the diet in galactokinase deficiency

The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia

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