| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy
|
Zhang, Tianbo
|
|
|
39 |
C |
p.
|
artikel
|
| 2 |
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review
|
Schoser, Benedikt
|
|
|
39 |
C |
p.
|
artikel
|
| 3 |
Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease
|
Norris, Marie K.
|
|
|
39 |
C |
p.
|
artikel
|
| 4 |
An attenuated, adult case of AADC deficiency demonstrated by protein characterization
|
Bisello, Giovanni
|
|
|
39 |
C |
p.
|
artikel
|
| 5 |
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
|
Meldau, Surita
|
|
|
39 |
C |
p.
|
artikel
|
| 6 |
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia
|
Costa-Júnior, Domício Antônio
|
|
|
39 |
C |
p.
|
artikel
|
| 7 |
Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry
|
Kenneson, Aileen
|
|
|
39 |
C |
p.
|
artikel
|
| 8 |
Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation
|
Zhong, Dan
|
|
|
39 |
C |
p.
|
artikel
|
| 9 |
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?
|
Tsukimura, Takahiro
|
|
|
39 |
C |
p.
|
artikel
|
| 10 |
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency
|
Mathis, Déborah
|
|
|
39 |
C |
p.
|
artikel
|
| 11 |
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV
|
Naito, Chie
|
|
|
39 |
C |
p.
|
artikel
|
| 12 |
Inherited metabolic disorders in Cyprus
|
Georgiou, Theodoros
|
|
|
39 |
C |
p.
|
artikel
|
| 13 |
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis
|
Demaret, Tanguy
|
|
|
39 |
C |
p.
|
artikel
|
| 14 |
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)
|
Scala, Iris
|
|
|
39 |
C |
p.
|
artikel
|
| 15 |
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants
|
Li, Huizhong
|
|
|
39 |
C |
p.
|
artikel
|
| 16 |
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
|
Wang, Yu-Chi
|
|
|
39 |
C |
p.
|
artikel
|
| 17 |
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
|
Ohl, Laura
|
|
|
39 |
C |
p.
|
artikel
|
| 18 |
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
|
Harding, Cary O.
|
|
|
39 |
C |
p.
|
artikel
|
| 19 |
Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria
|
Beghini, Marianna
|
|
|
39 |
C |
p.
|
artikel
|
| 20 |
Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review
|
Redonnet-Vernhet, Isabelle
|
|
|
39 |
C |
p.
|
artikel
|
| 21 |
Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation
|
Hjalmarsson, Clara
|
|
|
39 |
C |
p.
|
artikel
|
| 22 |
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience
|
Bilgin, Huseyin
|
|
|
39 |
C |
p.
|
artikel
|
| 23 |
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots
|
Mauri, Alessia
|
|
|
39 |
C |
p.
|
artikel
|
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