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Propionic acidemia: neonatal versus selective metabolic screening

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.41-49

2012

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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.863-872

2015

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Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.957-967

2015

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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

The Journal of clinical investigation, 2001-02, Vol.107 (4), p.495-504

2001

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Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.401-401

2007

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CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families

Journal of inherited metabolic disease, 2002-11, Vol.25 (6), p.461-476

2002

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CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.361-369

2003

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Seventeen novel mutations that cause profound biotinidase deficiency

Molecular genetics and metabolism, 2002-09, Vol.77 (1), p.108-111

2002

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Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects

Molecular genetics and metabolism, 2003-07, Vol.79 (3), p.160-166

2003

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Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

European journal of pediatrics, 1994, Vol.153 (7 Suppl 1), p.S68-S80

1994

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The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

The Journal of biological chemistry, 2004-10, Vol.279 (41), p.42742-42749

2004

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Late-onset holocarboxylase synthetase-deficiency : pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

European journal of pediatrics, 1998-07, Vol.157 (7), p.570-575

1998

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Odd-numbered long-chain fatty acids in propionic acidaemia

European journal of pediatrics, 2000-01, Vol.159 (1-2), p.54-58

2000

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Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

Pediatric research, 1989-09, Vol.26 (3), p.260-266

1989

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Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

European journal of pediatrics, 1999-09, Vol.158 (9), p.730-733

1999

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A biotinidase Km variant causing late onset bilateral optic neuropathy

Archives of disease in childhood, 1992-01, Vol.67 (1), p.115-119

1992

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Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.115-122

1999

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Prenatal and postnatal treatment in cobalamin C defect

The Journal of pediatrics, 2005-10, Vol.147 (4), p.469-472

2005

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Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

European journal of pediatrics, 1998-03, Vol.157 (3), p.225-229

1998

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Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

Journal of inherited metabolic disease, 1990-01, Vol.13 (1), p.76-92

1990

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Cerebrospinal fluid organic acids in biotinidase deficiency

Journal of inherited metabolic disease, 1993-05, Vol.16 (3), p.513-516

1993

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cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Human mutation, 2005-03, Vol.25 (3), p.239-247

2005

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Biotinidase K m ‐variants: detection and detailed biochemical investigations

Journal of inherited metabolic disease, 1995-11, Vol.18 (6), p.689-700

1995

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5,10-Methylenetetrahydrofolate Reductase (MTHFR) Assay in the Forward Direction: Residual Activity in MTHFR Deficiency

Clinical chemistry (Baltimore, Md.), 2002-06, Vol.48 (6), p.835-843

2002

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Isolated biotin‐resistant deficiency of 3‐methylcrotonyl‐CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

Journal of inherited metabolic disease, 1992-11, Vol.15 (6), p.863-868

1992

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Propionic acidemia: neonatal versus selective metabolic screening

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Seventeen novel mutations that cause profound biotinidase deficiency

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Late-onset holocarboxylase synthetase-deficiency : pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

Odd-numbered long-chain fatty acids in propionic acidaemia

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

A biotinidase Km variant causing late onset bilateral optic neuropathy

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

Prenatal and postnatal treatment in cobalamin C defect

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

Cerebrospinal fluid organic acids in biotinidase deficiency

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Biotinidase K m ‐variants: detection and detailed biochemical investigations

5,10-Methylenetetrahydrofolate Reductase (MTHFR) Assay in the Forward Direction: Residual Activity in MTHFR Deficiency

Isolated biotin‐resistant deficiency of 3‐methylcrotonyl‐CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

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