| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease
|
Bertani, Valeria
|
|
|
133 |
3 |
p. 297-306
|
artikel
|
| 2 |
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2 −/− mouse model
|
Gibson, Rebecca A.
|
|
|
133 |
3 |
p. 269-276
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
|
133 |
3 |
p. IFC
|
artikel
|
| 4 |
Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients
|
Ranganath, L.R.
|
|
|
133 |
3 |
p. 324-331
|
artikel
|
| 5 |
Palynziq clinic: One year and 43 patients later
|
Lah, Melissa
|
|
|
133 |
3 |
p. 250-256
|
artikel
|
| 6 |
Porphyria attacks in prepubertal children and adolescents
|
Jaramillo-Calle, Daniel A.
|
|
|
133 |
3 |
p. 242-249
|
artikel
|
| 7 |
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
|
Koto, Yuta
|
|
|
133 |
3 |
p. 277-288
|
artikel
|
| 8 |
Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria
|
Beghini, Marianna
|
|
|
133 |
3 |
p. 257-260
|
artikel
|
| 9 |
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
|
Kripps, Kimberly A.
|
|
|
133 |
3 |
p. 231-241
|
artikel
|
| 10 |
Table of Contents
|
|
|
|
133 |
3 |
p. iii
|
artikel
|
| 11 |
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy
|
Jones, Harrison N.
|
|
|
133 |
3 |
p. 261-268
|
artikel
|
| 12 |
Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I
|
Roth, Johannes
|
|
|
133 |
3 |
p. 289-296
|
artikel
|
| 13 |
Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes
|
Takashima, Shigeo
|
|
|
133 |
3 |
p. 307-323
|
artikel
|
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