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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.5-22

2007

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Glutaric aciduria type I: Outcome in the Republic of Ireland

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.917-920

2004

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Homocystinuria due to cystathionine β‐synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

Journal of inherited metabolic disease, 1998-10, Vol.21 (7), p.738-747

1998

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Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

Arteriosclerosis, thrombosis, and vascular biology, 2001-12, Vol.21 (12), p.2080-2085

2001

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Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

Archives of disease in childhood, 2000-01, Vol.82 (1), p.67-70

2000

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Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

Neuropediatrics, 1996-06, Vol.27 (3), p.115-123

1996

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The intellectual abilities of early‐treated individuals with pyridoxine‐nonresponsive homocystinuria due to cystathionine β‐synthase deficiency

Journal of inherited metabolic disease, 2001-07, Vol.24 (4), p.437-447

2001

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Vascular Complications of Severe Hyperhomocysteinemia in Patients with Homocystinuria Due to Cystathionine β-Synthase Deficiency: Effects of Homocysteine-Lowering Therapy

Seminars in thrombosis and hemostasis, 2000, Vol.26 (3), p.335-340

2000

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The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Heredity, 2010-02, Vol.104 (2), p.148-154

2010

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Newborn screening for homocystinuria: Irish and world experience

European journal of pediatrics, 1998-04, Vol.157 Suppl 2 (S2), p.S84-S87

1998

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Glutaric aciduria and suspected child abuse

Archives of disease in childhood, 1999-05, Vol.80 (5), p.404-405

1999

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Opt-out testing for blood-borne viruses in primary care: a multicentre, prospective study

British journal of general practice, 2016-06, Vol.66 (647), p.e392-e396

2016

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Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy

Neuropediatrics, 2004-10, Vol.35 (5), p.312-316

2004

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Emergency treatment in glutaryl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.893-902

2004

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Maintenance treatment of glutaryl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (6), p.885-892

2004

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Abuse or metabolic disorder?

Archives of disease in childhood, 1998-04, Vol.78 (4), p.395-395

1998

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Maternal pyridoxine non‐responsive homocystinuria: the role of dietary treatment and anticoagulation

BJOG : an international journal of obstetrics and gynaecology, 2001-04, Vol.108 (4), p.425-428

2001

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Multiple origins for phenylketonuria in Europe

American journal of human genetics, 1992-12, Vol.51 (6), p.1355-1365

1992

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Ocular findings in glutaric aciduria type 1

Journal of pediatric ophthalmology and strabismus, 2000-09, Vol.37 (5), p.289

2000

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Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease

The New England journal of medicine, 1991-04, Vol.324 (17), p.1149-1155

1991

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Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population

Journal of AAPOS, 2001-10, Vol.5 (5), p.311-315

2001

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Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency

Thrombosis and haemostasis, 1999-04, Vol.81 (4), p.502-505

1999

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Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection

Human mutation, 2001-05, Vol.17 (5), p.432-432

2001

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Ocular complications in homocystinuria--early and late treated

British journal of ophthalmology, 1989-06, Vol.73 (6), p.427-431

1989

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Frequency distribution of the Q188R mutation in the Irish galactosaemic population

Journal of inherited metabolic disease, 1996-01, Vol.19 (2), p.217-219

1996

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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Glutaric aciduria type I: Outcome in the Republic of Ireland

Homocystinuria due to cystathionine β‐synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

The intellectual abilities of early‐treated individuals with pyridoxine‐nonresponsive homocystinuria due to cystathionine β‐synthase deficiency

Vascular Complications of Severe Hyperhomocysteinemia in Patients with Homocystinuria Due to Cystathionine β-Synthase Deficiency: Effects of Homocysteine-Lowering Therapy

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Newborn screening for homocystinuria: Irish and world experience

Glutaric aciduria and suspected child abuse

Opt-out testing for blood-borne viruses in primary care: a multicentre, prospective study

Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy

Emergency treatment in glutaryl‐CoA dehydrogenase deficiency

Maintenance treatment of glutaryl‐CoA dehydrogenase deficiency

Abuse or metabolic disorder?

Maternal pyridoxine non‐responsive homocystinuria: the role of dietary treatment and anticoagulation

Multiple origins for phenylketonuria in Europe

Ocular findings in glutaric aciduria type 1

Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease

Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population

Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency

Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection

Ocular complications in homocystinuria--early and late treated

Frequency distribution of the Q188R mutation in the Irish galactosaemic population

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