| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
|
Wijburg, Frits A.
|
|
|
134 |
1-2 |
p. 175-181
|
artikel
|
| 2 |
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
|
Balfoort, Berith M.
|
|
|
134 |
1-2 |
p. 96-116
|
artikel
|
| 3 |
Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis
|
Yuan, Shuai
|
|
|
134 |
1-2 |
p. 212-215
|
artikel
|
| 4 |
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices
|
Farrell, Philip M.
|
|
|
134 |
1-2 |
p. 8-19
|
artikel
|
| 5 |
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
|
D'Annibale, Olivia M.
|
|
|
134 |
1-2 |
p. 29-36
|
artikel
|
| 6 |
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses
|
Ferreira, Carlos R.
|
|
|
134 |
1-2 |
p. 87-95
|
artikel
|
| 7 |
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
|
Longo, Carmen
|
|
|
134 |
1-2 |
p. 147-155
|
artikel
|
| 8 |
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease
|
Thompson-Stone, Robert
|
|
|
134 |
1-2 |
p. 53-59
|
artikel
|
| 9 |
Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]
|
Himmelreich, Nastassja
|
|
|
134 |
1-2 |
p. 216
|
artikel
|
| 10 |
Cover 2 / Ed. Board
|
|
|
|
134 |
1-2 |
p. IFC
|
artikel
|
| 11 |
Current advances in overcoming obstacles of CRISPR/Cas9 off-target genome editing
|
Aquino-Jarquin, Guillermo
|
|
|
134 |
1-2 |
p. 77-86
|
artikel
|
| 12 |
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry
|
Mak, Justin
|
|
|
134 |
1-2 |
p. 43-52
|
artikel
|
| 13 |
Development and characterization of a mouse model for Acad9 deficiency
|
Sinsheimer, Andrew
|
|
|
134 |
1-2 |
p. 156-163
|
artikel
|
| 14 |
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States
|
Burton, Barbara K.
|
|
|
134 |
1-2 |
p. 182-187
|
artikel
|
| 15 |
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
|
Boulin, Thomas
|
|
|
134 |
1-2 |
p. 195-202
|
artikel
|
| 16 |
Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing
|
Domm, Jakob M.
|
|
|
134 |
1-2 |
p. 117-131
|
artikel
|
| 17 |
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease
|
Davids, Laura
|
|
|
134 |
1-2 |
p. 20-28
|
artikel
|
| 18 |
High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice
|
Ivask, Marilin
|
|
|
134 |
1-2 |
p. 203-211
|
artikel
|
| 19 |
Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs
|
Martiniano, Stacey L.
|
|
|
134 |
1-2 |
p. 65-67
|
artikel
|
| 20 |
In Memoriam: Professor Lee-Jun Wong, Ph.D.
|
Craigen, William J.
|
|
|
134 |
1-2 |
p. 1-2
|
artikel
|
| 21 |
Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses
|
Eisengart, Julie B.
|
|
|
134 |
1-2 |
p. 68-76
|
artikel
|
| 22 |
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations
|
Kaczmarek, Alexander Tobias
|
|
|
134 |
1-2 |
p. 188-194
|
artikel
|
| 23 |
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model
|
Greig, Jenny A.
|
|
|
134 |
1-2 |
p. 139-146
|
artikel
|
| 24 |
Natural history of Tay-Sachs disease in sheep
|
Story, Brett
|
|
|
134 |
1-2 |
p. 164-174
|
artikel
|
| 25 |
Newborn screening system: Safety, technology, advocacy
|
McCabe, Edward R.B.
|
|
|
134 |
1-2 |
p. 3-7
|
artikel
|
| 26 |
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening
|
Peretz, Ryan H.
|
|
|
134 |
1-2 |
p. 37-42
|
artikel
|
| 27 |
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency
|
Hart, Kim
|
|
|
134 |
1-2 |
p. 60-64
|
artikel
|
| 28 |
Table of Contents
|
|
|
|
134 |
1-2 |
p. iii-iv
|
artikel
|
| 29 |
Transient developmental delays in infants with Duarte-2 variant galactosemia
|
Waisbren, Susan E.
|
|
|
134 |
1-2 |
p. 132-138
|
artikel
|
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