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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

European journal of pediatrics, 2008-03, Vol.167 (3), p.267-277

2008

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Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients

Journal of medical genetics, 2013-01, Vol.50 (1), p.21-24

2013

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Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

Journal of inherited metabolic disease, 2013-01, Vol.36 (1), p.35-41

2013

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Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

Acta Paediatrica, 2008-11, Vol.97 (11), p.1577-1581

2008

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Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

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Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.495-500

2010

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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.787-796

2012

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Case 2: Suspected non-accidental injury

Acta pædiatrica (Oslo), 2006-10, Vol.95 (10), p.1322-3; discussion 1325-6

2006

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Anthropometry of patients with osteogenesis imperfecta

Archives of disease in childhood, 1999-06, Vol.80 (6), p.524-528

1999

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Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

Pediatric research, 2006-09, Vol.60 (3), p.315-320

2006

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Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening: 50 years of Newborn Screening

Journal of inherited metabolic disease, 2014, Vol.37 (2), p.223-230

2014

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Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands: 50 years of Newborn Screening

Journal of inherited metabolic disease, 2014, Vol.37 (2), p.215-222

2014

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Mutation-Based Growth Charts for SEDC and other COL2A1 Related Dysplasias: New Topics in the Skeletal Dysplasias

American journal of medical genetics. Part C, Seminars in medical genetics, 2012, Vol.160 (3), p.205-216

2012

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Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

Human genetics, 1995-07, Vol.96 (1), p.33-38

1995

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Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

Clinical genetics, 1996-11, Vol.50 (5), p.304-309

1996

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Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain or procollagen I in a family with dominant osteogenesis imperfecta type IV

Human genetics, 1996-03, Vol.97 (3), p.287-290

1996

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GENETIC COUNSELLING AND PRENATAL DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM

Prenatal diagnosis, 1996-11, Vol.16 (11), p.1032-1038

1996

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Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

Clinical genetics, 1992-02, Vol.41 (2), p.65-69

1992

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Atraumatic loss of a kidney in a patient with alpha1-antitrypsin deficiency

Nephron (2015), 1998, Vol.80 (1), p.71-75

1998

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Insulin initiation in patients with type 2 diabetes mellitus: treatment guidelines, clinical evidence and patterns of use of basal vs premixed insulin analogues

European journal of endocrinology, 2012-02, Vol.166 (2), p.159

2012

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Factors associated with recovery from anorexia nervosa

Journal of psychiatric research, 2013-07, Vol.47 (7), p.972-979

2013

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Impact of metformin versus repaglinide on non-glycaemic cardiovascular risk markers related to inflammation and endothelial dysfunction in non-obese patients with type 2 diabetes

European journal of endocrinology, 2008-05, Vol.158 (5), p.631-641

2008

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Combining insulin with metformin or an insulin secretagogue in non-obese patients with type 2 diabetes: 12 month, randomised, double blind trial

BMJ, 2009-11, Vol.339 (nov09 1), p.b4324-b4324

International edition, 2009

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Improved glycemic control induced by both metformin and repaglinide is associated with a reduction in blood levels of 3-deoxyglucosone in nonobese patients with type 2 diabetes

European journal of endocrinology, 2011-03, Vol.164 (3), p.371-379

2011

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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-Coa dehydrogenase deficiency

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Case 2: Suspected non-accidental injury

Anthropometry of patients with osteogenesis imperfecta

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening: 50 years of Newborn Screening

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands: 50 years of Newborn Screening

Mutation-Based Growth Charts for SEDC and other COL2A1 Related Dysplasias: New Topics in the Skeletal Dysplasias

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain or procollagen I in a family with dominant osteogenesis imperfecta type IV

GENETIC COUNSELLING AND PRENATAL DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

Atraumatic loss of a kidney in a patient with alpha1-antitrypsin deficiency

Insulin initiation in patients with type 2 diabetes mellitus: treatment guidelines, clinical evidence and patterns of use of basal vs premixed insulin analogues

Factors associated with recovery from anorexia nervosa

Impact of metformin versus repaglinide on non-glycaemic cardiovascular risk markers related to inflammation and endothelial dysfunction in non-obese patients with type 2 diabetes

Combining insulin with metformin or an insulin secretagogue in non-obese patients with type 2 diabetes: 12 month, randomised, double blind trial

Improved glycemic control induced by both metformin and repaglinide is associated with a reduction in blood levels of 3-deoxyglucosone in nonobese patients with type 2 diabetes

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