List of works - Mirjam Langeveld

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

scientific article published on 19 May 2017

A monozygotic twin pair with highly discordant Gaucher phenotypes ⬇️

scientific article published on November 5, 2010

Adaptive pathway development for Fabry disease: a clinical approach.

scientific article published on 15 February 2018

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment

scientific article published on 17 November 2018

Bone health in patients with inborn errors of metabolism

article

CCL18: a urinary marker of Gaucher cell burden in Gaucher patients

scientific article published on 30 May 2006

Classifying the additional morbidities of Gaucher disease.

scientific article published on 19 December 2016

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

scientific article published on 06 August 2018

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review

article

Editorial commentary: Newborn screening for Fabry disease: Too much too soon?

scientific article published on 5 January 2018

Education and training in adult metabolic medicine: Results of an international survey

scientific article published on 21 June 2019

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

scientific article published on 04 May 2017

Glycosphingolipids and insulin resistance

scientific article published on January 2011

Glycosphingolipids and insulin resistance.

scientific article published on 20 March 2009

Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease

scientific article published on 01 December 2015

Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels

scientific article published on 05 October 2007

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

scientific article published on 08 April 2019

Issues with European guidelines for phenylketonuria

scholarly article by Peter Burgard et al published September 2017 in The Lancet: Diabetes & Endocrinology

Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease.

scientific article published on 2 September 2008

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

scientific article published on 23 June 2016

Mild cold effects on hunger, food intake, satiety and skin temperature in humans.

scientific article published on 10 February 2016

Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice.

scientific article

Mucolipidosis type III, a series of adult patients

scientific article published on 27 April 2018

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

scientific article published on 15 December 2016

No metabolic effects of mustard allyl-isothiocyanate compared with placebo in men.

scientific article published on 25 October 2017

Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data

scientific article published on 12 July 2019

Osteoporosis in patients with erythropoietic protoporphyria

scientific article

Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy

scientific article published on 18 October 2007

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.

scientific article published on 7 July 2017

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

scientific article published on 25 January 2016

Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease

scientific article published in Scientific Reports

Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease

scientific article published on 07 December 2007

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.

scientific article published on 26 April 2016

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs

scientific article published on 01 February 2019

T-lymphocyte subset distribution in human spleen.

scientific article published in April 2006

The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease

scientific article published on 20 May 2019

The long-term effect of energy restricted diets for treating obesity

scientific article (publication date: August 2015)

The role of the clinician in the multi-omics era: are you ready?

scientific article published on 23 January 2018

Treatment of genetically obese mice with the iminosugar N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin reduces body weight by decreasing food intake and increasing fat oxidation

scientific article published on 3 August 2011

Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia

scientific article published on 01 March 2007

List of works by Mirjam Langeveld