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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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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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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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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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Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC)

Clinica chimica acta, 1988-10, Vol.177 (3), p.253-269

1988

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Biotinidasemangel: eine angeborene Stoffwechselerkrankung, die mit Vitamin H erfolgreich behandelt werden kann

Monatsschrift Kinderheilkunde, 1989, Vol.137 (11), p.737-740

1989

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A biotinidase Km variant causing late onset bilateral optic neutopathy

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

1992

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Cerebrospinal fluid organic acids in biotinidase deficiency: Inherited metabolic disease and the brain

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

1993

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Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H

Monatsschrift Kinderheilkunde, 1989-11, Vol.137 (11), p.737-740

1989

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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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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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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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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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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

American journal of human genetics, 2013-09, Vol.93 (3), p.506-514

2013

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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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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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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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Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

American journal of human genetics, 2004-11, Vol.75 (5), p.790-800

2004

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Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease

American journal of medical genetics, 2004-11, Vol.131A (1), p.101-102

2004

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

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

A biotinidase Km variant causing late onset bilateral optic neuropathy

Cerebrospinal fluid organic acids in biotinidase deficiency

Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC)

Biotinidasemangel: eine angeborene Stoffwechselerkrankung, die mit Vitamin H erfolgreich behandelt werden kann

A biotinidase Km variant causing late onset bilateral optic neutopathy

Cerebrospinal fluid organic acids in biotinidase deficiency: Inherited metabolic disease and the brain

Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H

Propionic acidemia: neonatal versus selective metabolic screening

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

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

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

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

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

Prenatal and postnatal treatment in cobalamin C defect

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

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease

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

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

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

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

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

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