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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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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

American journal of human genetics, 1999-02, Vol.64 (2), p.479-494

1999

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Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Journal of inherited metabolic disease, 2009, Vol.32 (4), p.570-575

2009

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Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up

Molecular genetics and metabolism, 2013-12, Vol.110 (4), p.472-476

2013

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The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin

Neuropediatrics, 2006-04, Vol.37 (2), p.72-78

2006

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Treatment with humanized monoclonal antibody against CD154 prevents acute renal allograft rejection in nonhuman primates

Nature medicine, 1999-06, Vol.5 (6), p.686-693

1999

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Malignant seminoma with metastasis, Sertoli cell tumor, and pheochromocytoma in a spotted dolphin (Stenella frontalis) and malignant seminoma with metastasis in a bottlenose dolphin (Tursiops truncatus)

Veterinary pathology, 2005-05, Vol.42 (3), p.357-359

2005

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Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood–brain barrier

Brain research, 2000-03, Vol.858 (2), p.348-355

2000

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Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.570-575

2009

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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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Transcobalamin II deficiency with methylmalonic aciduria in three sisters

Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.765-772

1999

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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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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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Perioperative management of a child with very‐long‐chain acyl‐coenzyme A dehydrogenase deficiency

Pediatric anesthesia, 2002-02, Vol.12 (2), p.187-191

2002

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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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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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Primate skin allotransplantation with anti-CD154 monotherapy

Transplantation proceedings, 2001-02, Vol.33 (1-2), p.675-676

2001

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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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Treatment with the humanized CD154-specific monoclonal antibody, hu5C8, prevents acute rejection of primary skin allografts in nonhuman primates

Transplantation, 2001-11, Vol.72 (9), p.1473

2001

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CblC/D defect combined with haemodynamically highly relevant VSD

Journal of inherited metabolic disease, 2001-08, Vol.24 (4), p.511-512

2001

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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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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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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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Coadministration of either cyclosporine or steroids with humanized monoclonal antibodies against CD80 and CD86 successfully prolong allograft survival after life supporting renal transplantation in cynomolgus monkeys

Transplantation, 2001-09, Vol.72 (6), p.1128

2001

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

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up

The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin

Treatment with humanized monoclonal antibody against CD154 prevents acute renal allograft rejection in nonhuman primates

Malignant seminoma with metastasis, Sertoli cell tumor, and pheochromocytoma in a spotted dolphin (Stenella frontalis) and malignant seminoma with metastasis in a bottlenose dolphin (Tursiops truncatus)

Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood–brain barrier

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Seventeen novel mutations that cause profound biotinidase deficiency

Transcobalamin II deficiency with methylmalonic aciduria in three sisters

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

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

Perioperative management of a child with very‐long‐chain acyl‐coenzyme A dehydrogenase deficiency

Delayed-onset profound biotinidase deficiency

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

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

Primate skin allotransplantation with anti-CD154 monotherapy

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

Treatment with the humanized CD154-specific monoclonal antibody, hu5C8, prevents acute rejection of primary skin allografts in nonhuman primates

CblC/D defect combined with haemodynamically highly relevant VSD

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

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

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

Coadministration of either cyclosporine or steroids with humanized monoclonal antibodies against CD80 and CD86 successfully prolong allograft survival after life supporting renal transplantation in cynomolgus monkeys

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