Results
|
|
461.
|
|
|
|
462.
|
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. [electronic resource] by
- Ng, Bobby G
- Underhill, Hunter R
- Palm, Lars
- Bengtson, Per
- Rozet, Jean-Michel
- Gerber, Sylvie
- Munnich, Arnold
- Zanlonghi, Xavier
- Stevens, Cathy A
- Kircher, Martin
- Nickerson, Deborah A
- Buckingham, Kati J
- Josephson, Kevin D
- Shendure, Jay
- Bamshad, Michael J
- Freeze, Hudson H
- Eklund, Erik A
Publication details: JIMD reports 2019
In:
JIMD reports vol. 44
Availability: No items available.
|
|
|
463.
|
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency. [electronic resource] by
- Wang, Heng
- Sency, Valerie
- McJarrow, Paul
- Bright, Alicia
- Huang, Qianyang
- Cechner, Karen
- Szekely, Julia
- Brace, JoAnn
- Wang, Andi
- Liu, Danting
- Rowan, Angela
- Wiznitzer, Max
- Zhou, Aimin
- Xin, Baozhong
Publication details: JIMD reports 2019
In:
JIMD reports vol. 45
Availability: No items available.
|
|
|
464.
|
|
|
|
465.
|
|
|
|
466.
|
|
|
|
467.
|
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. [electronic resource] by
- Iuso, Arcangela
- Alhaddad, Bader
- Weigel, Corina
- Kotzaeridou, Urania
- Mastantuono, Elisa
- Schwarzmayr, Thomas
- Graf, Elisabeth
- Terrile, Caterina
- Prokisch, Holger
- Strom, Tim M
- Hoffmann, Georg F
- Meitinger, Thomas
- Haack, Tobias B
Publication details: JIMD reports 2019
In:
JIMD reports vol. 44
Availability: No items available.
|
|
|
468.
|
|
|
|
469.
|
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience. [electronic resource] by
- Shanmugam, Naresh P
- Valamparampil, Joseph J
- Reddy, Mettu Srinivas
- Al Said, Khoula Julenda
- Al-Thihli, Khalid
- Al-Hashmi, Nadia
- Al-Jishi, Emtithal
- Isa, Hasan Mohamed Ali
- Jalan, Anil B
- Rela, Mohamed
Publication details: JIMD reports 2019
In:
JIMD reports vol. 45
Availability: No items available.
|
|
|
470.
|
|
|
|
471.
|
|
|
|
472.
|
|
|
|
473.
|
|
|
|
474.
|
|
|
|
475.
|
|
|
|
476.
|
|
|
|
477.
|
High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency. [electronic resource] by
- Higashimoto, Tomoyasu
- Kim, Alexander Y
- Ogawa, Jessica T
- Sloan, Jennifer L
- Almuqbil, Mohammed A
- Carlson, Julia M
- Manoli, Irini
- Venditti, Charles P
- Gunay-Aygun, Meral
- Wang, Tao
Publication details: JIMD reports Jan 2020
In:
JIMD reports vol. 51
Availability: No items available.
|
|
|
478.
|
|
|
|
479.
|
|
|
|
480.
|
|