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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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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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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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Biotinidase Km-variants : detection and detailed biochemical investigations

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

1995

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Holocarboxylase synthetase deficiency : early diagnosis and management of a new case

European journal of pediatrics, 1993-05, Vol.152 (5), p.446-449

1993

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Delayed-onset profound biotnidase deficiency

1998

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Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

European journal of pediatrics, 2003-12, Vol.162 Suppl 1, p.S46-S49

2003

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Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient

European journal of pediatrics, 1990-03, Vol.149 (6), p.412-415

1990

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Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

European journal of pediatrics, 2001-05, Vol.160 (5), p.277-282

2001

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Delayed-onset profound biotinidase deficiency

The Journal of pediatrics, 1998-02, Vol.132 (2), p.362-365

1998

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Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency

Pediatric research, 1999-12, Vol.46 (6), p.671-676

1999

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Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

Pediatric research, 1997-05, Vol.41 (5), p.666-673

1997

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Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency

European journal of pediatrics, 1985-05, Vol.144 (1), p.21-26

1985

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3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

European journal of pediatrics, 2000-12, Vol.159 (12), p.901-904

2000

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency : long-term outcome in a case with neonatal onset

European journal of pediatrics, 1996-07, Vol.155 (7), p.568-572

1996

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Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin

Helvetica paediatrica acta, 1982, Vol.37 (5), p.499

1982

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Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results

European journal of pediatrics, 1988-06, Vol.147 (5), p.478-480

1988

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LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.121-126

2011

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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

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

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

Biotinidase Km-variants : detection and detailed biochemical investigations

Holocarboxylase synthetase deficiency : early diagnosis and management of a new case

Delayed-onset profound biotnidase deficiency

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

Delayed-onset profound biotinidase deficiency

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency

Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency : long-term outcome in a case with neonatal onset

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin

Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism

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