Search research articles
Contact Us
Filters
Showing results (821-830 of 1,250) with videos related to
Page
of 125
Sort By:
JIMD Reports
|
July 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency
Maina P Kava, Leah Bryant, Peter Rowe, et al.
JIMD Reports
|
March 31, 2015
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa
Ozlem Goker-Alpan, Khan Nedd, Suma P Shankar, et al.
JIMD Reports
|
February 11, 2015
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase
Josep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, et al.
JIMD Reports
|
February 11, 2015
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation
J Rasmussen, J A Thomsen, J H Olesen, et al.
JIMD Reports
|
March 28, 2015
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model
Ana I Coelho, Matilde Trabuco, Maria João Silva, et al.
JIMD Reports
|
March 13, 2015
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
Johann Hofereiter, Matthew D Smith, Jai Seth, et al.
JIMD Reports
|
March 13, 2015
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia
Masa-Aki Kawashiri, Hayato Tada, Marowa Hashimoto, et al.
JIMD Reports
|
January 24, 2015
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature
Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, et al.
JIMD Reports
|
January 24, 2015
Parkinsonism in phenylketonuria: a consequence of dopamine depletion?
Marieke Velema, Erik Boot, Marc Engelen, et al.
JIMD Reports
|
February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
Anna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
Page
of 125
Search research articles
Search
Showing results (821-830 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
July 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency
Maina P Kava, Leah Bryant, Peter Rowe, et al.
JIMD Reports
|
March 31, 2015
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa
Ozlem Goker-Alpan, Khan Nedd, Suma P Shankar, et al.
JIMD Reports
|
February 11, 2015
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase
Josep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, et al.
JIMD Reports
|
February 11, 2015
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation
J Rasmussen, J A Thomsen, J H Olesen, et al.
JIMD Reports
|
March 28, 2015
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model
Ana I Coelho, Matilde Trabuco, Maria João Silva, et al.
JIMD Reports
|
March 13, 2015
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
Johann Hofereiter, Matthew D Smith, Jai Seth, et al.
JIMD Reports
|
March 13, 2015
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia
Masa-Aki Kawashiri, Hayato Tada, Marowa Hashimoto, et al.
JIMD Reports
|
January 24, 2015
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature
Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, et al.
JIMD Reports
|
January 24, 2015
Parkinsonism in phenylketonuria: a consequence of dopamine depletion?
Marieke Velema, Erik Boot, Marc Engelen, et al.
JIMD Reports
|
February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
Anna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
Page
of 125