| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A glimpse into past, present, and future DNA sequencing
|
Morey, Marcos
|
|
2013
|
110 |
1-2 |
p. 3-24
22 p.
|
artikel
|
| 2 |
ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
|
Riess, Suzi
|
|
2013
|
110 |
1-2 |
p. 170-175
6 p.
|
artikel
|
| 3 |
Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing
|
Hollegaard, Mads Vilhelm
|
|
2013
|
110 |
1-2 |
p. 65-72
8 p.
|
artikel
|
| 4 |
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz Syndrome
|
Hall, Patricia
|
|
2013
|
110 |
1-2 |
p. 176-178
3 p.
|
artikel
|
| 5 |
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease
|
Rodriguez-Gil, Jorge L.
|
|
2013
|
110 |
1-2 |
p. 188-190
3 p.
|
artikel
|
| 6 |
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation
|
Bruun, Gitte Hoffmann
|
|
2013
|
110 |
1-2 |
p. 122-128
7 p.
|
artikel
|
| 7 |
Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy
|
Vitoria, Isidro
|
|
2013
|
110 |
1-2 |
p. 181-183
3 p.
|
artikel
|
| 8 |
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
|
Fukao, Toshiyuki
|
|
2013
|
110 |
1-2 |
p. 184-187
4 p.
|
artikel
|
| 9 |
Diagnosis of mitochondrial myopathies
|
Milone, Margherita
|
|
2013
|
110 |
1-2 |
p. 35-41
7 p.
|
artikel
|
| 10 |
Differences between acylcarnitine profiles in plasma and bloodspots
|
de Sain-van der Velden, Monique G.M.
|
|
2013
|
110 |
1-2 |
p. 116-121
6 p.
|
artikel
|
| 11 |
Editorial Board
|
|
|
2013
|
110 |
1-2 |
p. IFC-
1 p.
|
artikel
|
| 12 |
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
|
Tort, Frederic
|
|
2013
|
110 |
1-2 |
p. 73-77
5 p.
|
artikel
|
| 13 |
Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
|
Vuillaume, Marie-Laure
|
|
2013
|
110 |
1-2 |
p. 90-97
8 p.
|
artikel
|
| 14 |
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria
|
Illson, Margaret L.
|
|
2013
|
110 |
1-2 |
p. 86-89
4 p.
|
artikel
|
| 15 |
Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C
|
Alavi, Afagh
|
|
2013
|
110 |
1-2 |
p. 139-144
6 p.
|
artikel
|
| 16 |
Improving surveillance for hyperammonemia in the newborn
|
Vergano, Samantha A.
|
|
2013
|
110 |
1-2 |
p. 102-105
4 p.
|
artikel
|
| 17 |
Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool
|
Iacobazzi, Vito
|
|
2013
|
110 |
1-2 |
p. 25-34
10 p.
|
artikel
|
| 18 |
Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites
|
Clarke, Colleen
|
|
2013
|
110 |
1-2 |
p. 145-152
8 p.
|
artikel
|
| 19 |
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
|
Chanprasert, Sirisak
|
|
2013
|
110 |
1-2 |
p. 153-161
9 p.
|
artikel
|
| 20 |
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
|
Jones, Melanie A.
|
|
2013
|
110 |
1-2 |
p. 78-85
8 p.
|
artikel
|
| 21 |
Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels
|
Dũng, Vũ Chí
|
|
2013
|
110 |
1-2 |
p. 129-138
10 p.
|
artikel
|
| 22 |
Newborn screening and diagnosis of mucopolysaccharidoses
|
Tomatsu, Shunji
|
|
2013
|
110 |
1-2 |
p. 42-53
12 p.
|
artikel
|
| 23 |
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations
|
Mercimek-Mahmutoglu, Saadet
|
|
2013
|
110 |
1-2 |
p. 197-
1 p.
|
artikel
|
| 24 |
[No title]
|
Stove, Christophe P.
|
|
2013
|
110 |
1-2 |
p. 195-
1 p.
|
artikel
|
| 25 |
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
|
Van Calcar, Sandra C.
|
|
2013
|
110 |
1-2 |
p. 111-115
5 p.
|
artikel
|
| 26 |
Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
|
Brassier, A.
|
|
2013
|
110 |
1-2 |
p. 106-110
5 p.
|
artikel
|
| 27 |
Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots
|
Forni, Sabrina
|
|
2013
|
110 |
1-2 |
p. 196-
1 p.
|
artikel
|
| 28 |
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA
|
Hendriksz, C.J.
|
|
2013
|
110 |
1-2 |
p. 54-64
11 p.
|
artikel
|
| 29 |
Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain
|
Golbahar, J.
|
|
2013
|
110 |
1-2 |
p. 98-101
4 p.
|
artikel
|
| 30 |
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
|
Guglielmi, Valeria
|
|
2013
|
110 |
1-2 |
p. 162-169
8 p.
|
artikel
|
| 31 |
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency
|
Frank, Graeme R.
|
|
2013
|
110 |
1-2 |
p. 191-194
4 p.
|
artikel
|
| 32 |
Table of Contents
|
|
|
2013
|
110 |
1-2 |
p. iii-v
nvt p.
|
artikel
|
| 33 |
The incidence of urea cycle disorders
|
Summar, Marshall L.
|
|
2013
|
110 |
1-2 |
p. 179-180
2 p.
|
artikel
|
| 34 |
Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings?
|
Rosenblatt, David S.
|
|
2013
|
110 |
1-2 |
p. 1-2
2 p.
|
artikel
|
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