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Inflammation and atrial remodeling after a mountain marathon

Scandinavian journal of medicine & science in sports, 2014-06, Vol.24 (3), p.519-525

2014

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Serum acylcarnitine profile in endurance horses with and without metabolic dysfunction

The veterinary journal (1997), 2020-01, Vol.255, p.105419-105419, Article 105419

2020

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A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

European journal of pediatrics, 2016-04, Vol.175 (4), p.517-525

2016

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Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Parkinsonism & related disorders, 2024-03, Vol.120, p.105460-105460, Article 105460

2024

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Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells

Analyst (London), 2017-01, Vol.142 (3), p.465-471

2017

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Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors

Molecular and cellular endocrinology, 2010-01, Vol.314 (1), p.101-109

2010

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Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy

Magnetic resonance in medicine, 2009-07, Vol.62 (1), p.11-16

2009

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Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child

Skin health and disease, 2021-06, Vol.1 (2), p.e25-n/a

2021

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Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

British journal of ophthalmology, 2014-10, Vol.98 (10), p.1453-1459

2014

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Novel mutation in OTC gene causes neonatal death in twin brothers

Journal of Perinatology, 2007-02, Vol.27 (2), p.123-124

2007

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Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

European journal of pediatrics, 2000-01, Vol.159 (1-2), p.82-85

2000

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Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line

Journal of endocrinology, 2000-05, Vol.165 (2), p.313-320

2000

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Identification of the molecular defect in a severe case of carnitine‐acylcarnitine carrier deficiency

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.267-270

1999

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Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

Mitochondrion, 2011-05, Vol.11 (3), p.488-496

2011

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Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein

Molecular and cellular endocrinology, 1997-07, Vol.131 (1), p.89-96

1997

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Treatment with low‐dose diazoxide in two growth‐retarded prepubertal girls with glycogen storage disease type Ia resulted in catch‐up growth

Journal of inherited metabolic disease, 1997-11, Vol.20 (6), p.790-798

1997

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A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1054-1063

2019

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Novel mitochondrial tRNA Ile m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

British journal of ophthalmology, 2014-10, Vol.98 (10), p.1453-1459

2014

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Circulating ionized and total magnesium in end-stage kidney disease

Nephron (2015), 1998, Vol.79 (3), p.288

1998

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Management of phenylketonuria in Europe: Survey results from 19 countries

Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.109-115

2010

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Novel mitochondrial tRNAIle m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

British journal of ophthalmology, 2014-10, Vol.98 (10), p.1453-1459

2014

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Les maladies héréditaires du métabolisme à l'âge adulte

La Revue de médecine interne (Paris), 1998, Vol.19, p.366-375

1998

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Chondrodysplasia punctata with a mild clinical course

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.60-66

1994

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Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1 H‐MR spectroscopy

Magnetic resonance in medicine, 2009-07, Vol.62 (1), p.11-16

2009

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Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland

Swiss medical weekly, 2014, Vol.144, p.w14074

2014

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Inflammation and atrial remodeling after a mountain marathon

Serum acylcarnitine profile in endurance horses with and without metabolic dysfunction

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells

Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors

Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy

Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

Novel mutation in OTC gene causes neonatal death in twin brothers

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line

Identification of the molecular defect in a severe case of carnitine‐acylcarnitine carrier deficiency

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein

Treatment with low‐dose diazoxide in two growth‐retarded prepubertal girls with glycogen storage disease type Ia resulted in catch‐up growth

A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency

Novel mitochondrial tRNA Ile m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

Circulating ionized and total magnesium in end-stage kidney disease

Management of phenylketonuria in Europe: Survey results from 19 countries

Novel mitochondrial tRNAIle m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

Les maladies héréditaires du métabolisme à l'âge adulte

Chondrodysplasia punctata with a mild clinical course

Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1 H‐MR spectroscopy

Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland

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