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Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

The New England journal of medicine, 2002-12, Vol.347 (26), p.2122-2132

2002

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Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

Human molecular genetics, 2003-08, Vol.12 (15), p.1839-1845

2003

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Age-related Reference Values for Serum Selenium Concentrations in Infants and Children

Clinical chemistry (Baltimore, Md.), 2002-03, Vol.48 (3), p.555-560

2002

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Role of Pex19p in the targeting of PMP70 to peroxisome

Biochimica et biophysica acta, 2005-12, Vol.1746 (2), p.116-128

2005

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Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific

Clinical chemistry (Baltimore, Md.), 2001-10, Vol.47 (10), p.1763-1768

2001

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Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G

American journal of human genetics, 2000-10, Vol.67 (4), p.967-975

2000

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Validation of MCADD newborn screening

Clinical genetics, 2009-08, Vol.76 (2), p.179-187

2009

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Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

Annals of neurology, 2002-11, Vol.52 (5), p.683-688

2002

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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Annals of neurology, 2004-10, Vol.56 (4), p.560-564

2004

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Fish oil supplementation improves visual evoked potentials in children with phenylketonuria

Neurology, 2001-10, Vol.57 (8), p.1488

2001

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A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

Annals of neurology, 2002-08, Vol.52 (2), p.237-239

2002

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OR11-001 - Protein misfolding in mevalonate kinase deficiency

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A190-A190, Article A190

2013

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The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis

European journal of cell biology, 2003-07, Vol.82 (7), p.333-342

2003

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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

1996

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Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

European journal of pediatrics, 2004-02, Vol.163 (2), p.76-80

2004

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Two Splice Variants of Human PEX19 Exhibit Distinct Functions in Peroxisomal Assembly

Biochemical and biophysical research communications, 2002-03, Vol.291 (5), p.1180-1186

2002

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Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

Clinica chimica acta, 2000-08, Vol.298 (1), p.55-68

2000

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Human Adrenoleukodystrophy Protein and Related Peroxisomal ABC Transporters Interact with the Peroxisomal Assembly Protein PEX19p

Biochemical and biophysical research communications, 2000-04, Vol.271 (1), p.144-150

2000

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T-cell-depleted peripheral blood stem cell transplantation for α-mannosidosis

Bone marrow transplantation (Basingstoke), 2003-08, Vol.32 (4), p.443-446

2003

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D‐2‐Hydroxyglutaric aciduria: Further clinical delineation

Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.404-413

1999

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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

Human molecular genetics, 2001-06, Vol.10 (12), p.1299-1306

2001

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Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

European journal of pediatrics, 2001-05, Vol.160 (5), p.267-276

2001

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Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

Molecular genetics and metabolism, 2000-03, Vol.69 (3), p.213-222

2000

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Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Neuropediatrics, 2000-06, Vol.31 (3), p.137

2000

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First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome

Prenatal diagnosis, 2004-02, Vol.24 (2), p.151-153

2004

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Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

Age-related Reference Values for Serum Selenium Concentrations in Infants and Children

Role of Pex19p in the targeting of PMP70 to peroxisome

Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific

Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G

Validation of MCADD newborn screening

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Fish oil supplementation improves visual evoked potentials in children with phenylketonuria

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

OR11-001 - Protein misfolding in mevalonate kinase deficiency

The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis

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

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

Two Splice Variants of Human PEX19 Exhibit Distinct Functions in Peroxisomal Assembly

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

Human Adrenoleukodystrophy Protein and Related Peroxisomal ABC Transporters Interact with the Peroxisomal Assembly Protein PEX19p

T-cell-depleted peripheral blood stem cell transplantation for α-mannosidosis

D‐2‐Hydroxyglutaric aciduria: Further clinical delineation

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome

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