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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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Creatine deficiency in the brain : a new, treatable inborn error of metabolism

Pediatric research, 1994-09, Vol.36 (3), p.409-413

1994

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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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Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis

Metabolism, clinical and experimental, 1997-10, Vol.46 (10), p.1189-1193

1997

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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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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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Recurrent acroparaesthesia during febrile infections

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

2004

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Long term follow-up of the dietary intake in propionic acidemia

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100757, Article 100757

2021

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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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Physiology and pathophysiology of organic acids in cerebrospinal fluid

Journal of inherited metabolic disease, 1993-01, Vol.16 (4), p.648-669

1993

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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.127-136

2003

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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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Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS)

Sleep medicine, 2015-12, Vol.16, p.S205-S205

2015

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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.157-161

2002

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Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

The Lancet (British edition), 1996-09, Vol.348 (9030), p.789-790

1996

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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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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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Guanidinoacetate methyltransferase deficiency : The first inborn error of creatine metabolism in man

American journal of human genetics, 1996-05, Vol.58 (5), p.914-922

1996

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Suggested clinical immobilization test (SCIT) for diagnosis of Willis–Ekbom disease in clinical practice

Sleep medicine, 2015-12, Vol.16, p.S205-S206

2015

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Treatable inborn errors of metabolism causing neurological symptoms in adults

Molecular genetics and metabolism, 2013-12, Vol.110 (4), p.431-438

2013

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Expert video analysis (EVA)-video-viewer-prototype for annotating sleep/wake behaviour videos

Sleep medicine, 2015-12, Vol.16, p.S30-S30

2015

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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

Creatine deficiency in the brain : a new, treatable inborn error of metabolism

Characterization of seven novel mutations in seven patients with GAMT deficiency

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis

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

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

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

Recurrent acroparaesthesia during febrile infections

Long term follow-up of the dietary intake in propionic acidemia

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

Physiology and pathophysiology of organic acids in cerebrospinal fluid

Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency

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

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

Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS)

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

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

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

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

Guanidinoacetate methyltransferase deficiency : The first inborn error of creatine metabolism in man

Suggested clinical immobilization test (SCIT) for diagnosis of Willis–Ekbom disease in clinical practice

Treatable inborn errors of metabolism causing neurological symptoms in adults

Expert video analysis (EVA)-video-viewer-prototype for annotating sleep/wake behaviour videos

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