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JIMD Reports
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November 7, 2022
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
Chiel J de Bode, Emma J Dogterom, Antoinette V J Rozeboom, et al.
JIMD Reports
|
November 7, 2022
Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases
Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, et al.
JIMD Reports
|
November 7, 2022
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy
Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
JIMD Reports
|
May 12, 2021
Wanted: A vocabulary for talking about involuntary behaviors associated with Lesch-Nyhan disease
Kenneth L Robey, Daniel C Balboni
JIMD Reports
|
May 12, 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
Ayse Ergul Bozaci, Esra Er, Havva Yazici, et al.
JIMD Reports
|
May 12, 2021
The natural history of glycogen storage disease type Ib in England: A multisite survey
Rebecca Halligan, Fiona J White, Bernd Schwahn, et al.
JIMD Reports
|
May 12, 2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
Renuka Pudi Limgala, Vyacheslav Furtak, Margarita M Ivanova, et al.
JIMD Reports
|
May 12, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Sandra D K Kingma, Berten Ceulemans, Sandra Kenis, et al.
JIMD Reports
|
September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Marne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.
JIMD Reports
|
September 6, 2021
The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience
Caroline Hart, Jenny McNulty, Melanie Cotter, et al.
Page
of 125
Search research articles
Search
Showing results (841-850 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
November 7, 2022
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
Chiel J de Bode, Emma J Dogterom, Antoinette V J Rozeboom, et al.
JIMD Reports
|
November 7, 2022
Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases
Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, et al.
JIMD Reports
|
November 7, 2022
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy
Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
JIMD Reports
|
May 12, 2021
Wanted: A vocabulary for talking about involuntary behaviors associated with Lesch-Nyhan disease
Kenneth L Robey, Daniel C Balboni
JIMD Reports
|
May 12, 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
Ayse Ergul Bozaci, Esra Er, Havva Yazici, et al.
JIMD Reports
|
May 12, 2021
The natural history of glycogen storage disease type Ib in England: A multisite survey
Rebecca Halligan, Fiona J White, Bernd Schwahn, et al.
JIMD Reports
|
May 12, 2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
Renuka Pudi Limgala, Vyacheslav Furtak, Margarita M Ivanova, et al.
JIMD Reports
|
May 12, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Sandra D K Kingma, Berten Ceulemans, Sandra Kenis, et al.
JIMD Reports
|
September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Marne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.
JIMD Reports
|
September 6, 2021
The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience
Caroline Hart, Jenny McNulty, Melanie Cotter, et al.
Page
of 125