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Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

Journal of inherited metabolic disease, 2003-01, Vol.26 (2-3), p.299-308

2003

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Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.694-699

2007

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Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy

Neuropediatrics, 2005-06, Vol.36 (3), p.200

2005

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Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

Molecular genetics and metabolism, 2004-07, Vol.82 (3), p.208-213

2004

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Characterization of seven novel mutations in seven patients with GAMT deficiency

Human mutation, 2004-05, Vol.23 (5), p.524-524

2004

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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

Clinical pediatrics, 2003-10, Vol.42 (8), p.703-710

2003

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Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy

Journal of inherited metabolic disease, 2003-01, Vol.26 (8), p.761-773

2003

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Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

Molecular genetics and metabolism, 2010-05, Vol.100 (1), p.24-28

2010

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Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (6), p.877-883

2004

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Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype

Neuropediatrics, 2003-06, Vol.34 (3), p.127

2003

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Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy

Neuropediatrics, 2002-06, Vol.33 (3), p.157

2002

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Recurrent acroparaesthesia during febrile infections

The Lancet (British edition), 2004-05, Vol.363 (9422), p.1698-1698

2004

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Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Acta pædiatrica (Oslo), 2005, Vol.94 (1), p.48-52

2005

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Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.328-334

2005

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Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

European journal of human genetics : EJHG, 2001-04, Vol.9 (4), p.237-243

2001

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Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

American journal of human genetics, 2001-11, Vol.69 (5), p.1127-1133

2001

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Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)‐rich triglycerides

Journal of inherited metabolic disease, 2000-03, Vol.23 (2), p.113-119

2000

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Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

Neuropediatrics, 2020-06, Vol.51 (3), p.229

2020

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Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species

Life sciences (1973), 2001-08, Vol.69 (15), p.1805-1815

2001

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Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Acta Paediatrica, 2005-01, Vol.94 (1), p.48-52

2005

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In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.777-778

2008

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Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Annals of neurology, 2001-02, Vol.49 (2), p.195-201

2001

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Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

Annals of neurology, 2000-07, Vol.48 (1), p.121-125

2000

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Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I

Acta Paediatrica, 2003-05, Vol.92 (5), p.625-628

2003

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Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Annals of neurology, 2000-04, Vol.47 (4), p.540-543

2000

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Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

Characterization of seven novel mutations in seven patients with GAMT deficiency

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype

Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy

Recurrent acroparaesthesia during febrile infections

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)‐rich triglycerides

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

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