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Orphanet Journal of Rare Diseases
|
October 20, 2019
Cognitive functioning in patients with classical galactosemia: a systematic review
Merel E Hermans, Mendy M Welsink-Karssies, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2018
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
Michel van Weeghel, Lindsey Welling, Eileen P Treacy, et al.
Molecular Genetics and Metabolism
|
June 5, 2013
The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands
Indra Eijgelshoven, Serwet Demirdas, T Alexander Smith, et al.
Atherosclerosis
|
October 5, 2018
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria
Laura G Draijer, Annet M Bosch, Albert Wiegman, et al.
Orphanet Journal of Rare Diseases
|
October 31, 2012
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Annet M Bosch, Kevin Stroek, Nico G Abeling, et al.
JIMD Reports
|
February 23, 2013
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy
Rosanne Peuscher, Monique E Dijsselhof, Nico G Abeling, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
April 29, 2009
Predicting health-related quality of life of parents of children with inherited metabolic diseases
Janneke Hatzmann, Marlies J Valstar, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases
|
March 12, 2015
Bone health in phenylketonuria: a systematic review and meta-analysis
Serwet Demirdas, Katie E Coakley, Peter H Bisschop, et al.
Orphanet Journal of Rare Diseases
|
June 19, 2015
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Annet M Bosch, Alberto Burlina, Amy Cunningham, et al.
Annals of Clinical Biochemistry
|
November 27, 2023
Case report: Skin protective barrier cream interference in benzethonium chloride method for urine protein measurement in a 6-month-old girl
Ömer Özcan, Joanna Ae van Wijk, Annet M Bosch, et al.
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of 11
Search research articles
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Showing results (11-20 of 103) with videos related to
Sort By:
Page
of 11
Orphanet Journal of Rare Diseases
|
October 20, 2019
Cognitive functioning in patients with classical galactosemia: a systematic review
Merel E Hermans, Mendy M Welsink-Karssies, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2018
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
Michel van Weeghel, Lindsey Welling, Eileen P Treacy, et al.
Molecular Genetics and Metabolism
|
June 5, 2013
The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands
Indra Eijgelshoven, Serwet Demirdas, T Alexander Smith, et al.
Atherosclerosis
|
October 5, 2018
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria
Laura G Draijer, Annet M Bosch, Albert Wiegman, et al.
Orphanet Journal of Rare Diseases
|
October 31, 2012
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Annet M Bosch, Kevin Stroek, Nico G Abeling, et al.
JIMD Reports
|
February 23, 2013
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy
Rosanne Peuscher, Monique E Dijsselhof, Nico G Abeling, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
April 29, 2009
Predicting health-related quality of life of parents of children with inherited metabolic diseases
Janneke Hatzmann, Marlies J Valstar, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases
|
March 12, 2015
Bone health in phenylketonuria: a systematic review and meta-analysis
Serwet Demirdas, Katie E Coakley, Peter H Bisschop, et al.
Orphanet Journal of Rare Diseases
|
June 19, 2015
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Annet M Bosch, Alberto Burlina, Amy Cunningham, et al.
Annals of Clinical Biochemistry
|
November 27, 2023
Case report: Skin protective barrier cream interference in benzethonium chloride method for urine protein measurement in a 6-month-old girl
Ömer Özcan, Joanna Ae van Wijk, Annet M Bosch, et al.
Page
of 11