Results
|
|
301.
|
|
|
|
302.
|
|
|
|
303.
|
|
|
|
304.
|
|
|
|
305.
|
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase. [electronic resource] by
- Demirbas, Didem
- Harris, David J
- Arn, Pamela H
- Huang, Xiaoping
- Waisbren, Susan E
- Anselm, Irina
- Lerner-Ellis, Jordan P
- Wong, Lee-Jun
- Levy, Harvey L
- Berry, Gerard T
Publication details: JIMD reports Mar 2019
In:
JIMD reports vol. 46
Availability: No items available.
|
|
|
306.
|
|
|
|
307.
|
|
|
|
308.
|
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. [electronic resource] by
- Scalais, Emmanuel
- Osterheld, Elise
- Geron, Christine
- Pierron, Charlotte
- Chafai, Ronit
- Schlesser, Vincent
- Borde, Patricia
- Regal, Luc
- Laeremans, Hilde
- van Gassen, Koen L I
- van den Heuvel, L Bert
- De Meirleir, Linda
Publication details: JIMD reports Sep 2019
In:
JIMD reports vol. 49
Availability: No items available.
|
|
|
309.
|
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion. [electronic resource] by
- Yokoi, Katsuyuki
- Nakajima, Yoko
- Ohye, Tamae
- Inagaki, Hidehito
- Wada, Yoshinao
- Fukuda, Tokiko
- Sugie, Hideo
- Yuasa, Isao
- Ito, Tetsuya
- Kurahashi, Hiroki
Publication details: JIMD reports 2019
In:
JIMD reports vol. 43
Availability: No items available.
|
|
|
310.
|
|
|
|
311.
|
|
|
|
312.
|
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. [electronic resource] by
- Bush, Douglas
- Sremba, Leighann
- Lomax, Kate
- Lipsett, Jill
- Ketteridge, David
- Bratkovic, Drago
- Enchautegui-Colon, Yazmin
- Weisfeld-Adams, James
- Galambos, Csaba
- Lummus, Seth
- Wartchow, Eric
- Weinman, Jason
- Liptzin, Deborah R
- Baker, Peter
Publication details: JIMD reports 2019
In:
JIMD reports vol. 43
Availability: No items available.
|
|
|
313.
|
|
|
|
314.
|
|
|
|
315.
|
|
|
|
316.
|
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization. [electronic resource] by
- Penon-Portmann, Monica
- Lotz-Esquivel, Stephanie
- Chavez Carrera, Alejandra
- Jiménez-Hernández, Mildred
- Alvarado-Romero, Danny
- Segura-Cordero, Sharon
- Rimolo-Donadio, Fiorella
- Hevia-Urrutia, Francisco
- Mora-Guevara, Alfredo
- Saborío-Rocafort, Manuel
- Jiménez-Arguedas, Gabriela
- Badilla-Porras, Ramsés
Publication details: JIMD reports Mar 2020
In:
JIMD reports vol. 52
Availability: No items available.
|
|
|
317.
|
|
|
|
318.
|
|
|
|
319.
|
|
|
|
320.
|
|