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JIMD reports

Showing results (401-410 of 1,250) with videos related to

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JIMD Reports|February 23, 2013
Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa PatientChristiaan P Sentner, Kadir Caliskan, Wim B Vletter, et al.
JIMD Reports|February 23, 2013
The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patientsVěra Malinová, Grzegorz Węgrzyn, Magdalena Narajczyk
JIMD Reports|February 23, 2013
Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experienceA Vanclooster, R Devlieger, W Meersseman, et al.
JIMD Reports|February 23, 2013
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serumAbdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, et al.
JIMD Reports|February 23, 2013
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failureGiuseppina Marra, Paolo Gilles Vercelloni, Alberto Edefonti, et al.
JIMD Reports|February 23, 2013
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapyNigel J Manning, Elizabeth K Allen, Richard J Kirk, et al.
JIMD Reports|February 23, 2013
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunterM Westhoff, P Litterst
JIMD Reports|February 23, 2013
Hyperargininemia: a family with a novel mutation in an unexpected siteY Haimi Cohen, R Bargal, M Zeigler, et al.
JIMD Reports|February 23, 2013
A rare galactosemia complication: vitreous hemorrhageSahin Takci, Sibel Kadayifcilar, Turgay Coskun, et al.
JIMD Reports|February 23, 2013
Clinical and biochemical profiles of maple syrup urine disease in malaysian childrenZ Md Yunus, Dp Abg Kamaludin, M Mamat, et al.
Pageof 125

Showing results (401-410 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 23, 2013
Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa PatientChristiaan P Sentner, Kadir Caliskan, Wim B Vletter, et al.
JIMD Reports|February 23, 2013
The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patientsVěra Malinová, Grzegorz Węgrzyn, Magdalena Narajczyk
JIMD Reports|February 23, 2013
Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experienceA Vanclooster, R Devlieger, W Meersseman, et al.
JIMD Reports|February 23, 2013
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serumAbdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, et al.
JIMD Reports|February 23, 2013
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failureGiuseppina Marra, Paolo Gilles Vercelloni, Alberto Edefonti, et al.
JIMD Reports|February 23, 2013
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapyNigel J Manning, Elizabeth K Allen, Richard J Kirk, et al.
JIMD Reports|February 23, 2013
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunterM Westhoff, P Litterst
JIMD Reports|February 23, 2013
Hyperargininemia: a family with a novel mutation in an unexpected siteY Haimi Cohen, R Bargal, M Zeigler, et al.
JIMD Reports|February 23, 2013
A rare galactosemia complication: vitreous hemorrhageSahin Takci, Sibel Kadayifcilar, Turgay Coskun, et al.
JIMD Reports|February 23, 2013
Clinical and biochemical profiles of maple syrup urine disease in malaysian childrenZ Md Yunus, Dp Abg Kamaludin, M Mamat, et al.
Pageof 125