Lista de obras - Mirjam Langeveld - Dominio Público Uruguay

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

artículo científico publicado en 2017

A monozygotic twin pair with highly discordant Gaucher phenotypes ⬇️

artículo científico publicado el 5 de noviembre de 2010

Adaptive pathway development for Fabry disease: a clinical approach.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Bone health in patients with inborn errors of metabolism

article

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

artículo científico publicado en 2006

Classifying the additional morbidities of Gaucher disease.

artículo científico publicado en 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?

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Glycosphingolipids and insulin resistance

artículo científico publicado en 2011

Glycosphingolipids and insulin resistance.

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2008

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Mucolipidosis type III, a series of adult patients

artículo científico publicado en 2018

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2017

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

T-lymphocyte subset distribution in human spleen.

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

scientific article published on 01 March 2007

Lista de obras de Mirjam Langeveld

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

A monozygotic twin pair with highly discordant Gaucher phenotypes ⬇️

Adaptive pathway development for Fabry disease: a clinical approach.

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

Bone health in patients with inborn errors of metabolism

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

Classifying the additional morbidities of Gaucher disease.

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

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

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

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

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

Glycosphingolipids and insulin resistance

Glycosphingolipids and insulin resistance.

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

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

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

Issues with European guidelines for phenylketonuria

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

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

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

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

Mucolipidosis type III, a series of adult patients

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

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

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

Osteoporosis in patients with erythropoietic protoporphyria

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

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

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

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

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

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

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

T-lymphocyte subset distribution in human spleen.

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

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

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

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

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