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Journal of Inherited Metabolic Disease
|
August 15, 2006
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome
F Furlan, R Santer, E Vismara, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency
R Parini, M Vegni, M Pontiggia, et al.
Developmental Pharmacology and Therapeutics
|
January 1, 1980
Multiexponential elimination of gentamicin. A kinetic study during development
B M Assael, G Cavanna, W J Jusko, et al.
Human Mutation
|
September 5, 2003
Mutational analysis of the AGL gene: five novel mutations in GSD III patients
S Lucchiari, M A Donati, D Melis, et al.
The Journal of Pediatrics
|
July 1, 1991
Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests
R Parini, B Garavaglia, J M Saudubray, et al.
European Journal of Endocrinology
|
March 29, 2001
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation
M C Ferrari, R Parini, M D Di Rocco, et al.
Clinical Dysmorphology
|
August 24, 2000
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression
S Russo, M F Bedeschi, F Cogliati, et al.
Molecular Genetics and Metabolism
|
February 23, 2019
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group
N Guffon, A Tylki-Szymanska, L Borgwardt, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment
R Parini, F Invernizzi, F Menni, et al.
Human Mutation
|
November 21, 2002
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL
S Lucchiari, M A Donati, R Parini, et al.
Page
of 8
Search research articles
Search
Showing results (21-30 of 72) with videos related to
Sort By:
Page
of 8
Journal of Inherited Metabolic Disease
|
August 15, 2006
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome
F Furlan, R Santer, E Vismara, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency
R Parini, M Vegni, M Pontiggia, et al.
Developmental Pharmacology and Therapeutics
|
January 1, 1980
Multiexponential elimination of gentamicin. A kinetic study during development
B M Assael, G Cavanna, W J Jusko, et al.
Human Mutation
|
September 5, 2003
Mutational analysis of the AGL gene: five novel mutations in GSD III patients
S Lucchiari, M A Donati, D Melis, et al.
The Journal of Pediatrics
|
July 1, 1991
Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests
R Parini, B Garavaglia, J M Saudubray, et al.
European Journal of Endocrinology
|
March 29, 2001
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation
M C Ferrari, R Parini, M D Di Rocco, et al.
Clinical Dysmorphology
|
August 24, 2000
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression
S Russo, M F Bedeschi, F Cogliati, et al.
Molecular Genetics and Metabolism
|
February 23, 2019
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group
N Guffon, A Tylki-Szymanska, L Borgwardt, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment
R Parini, F Invernizzi, F Menni, et al.
Human Mutation
|
November 21, 2002
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL
S Lucchiari, M A Donati, R Parini, et al.
Page
of 8