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                             32 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review Tano, Sho
33 C p.
 artikel
2 A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS Tabaku, Mirela
33 C p.
 artikel
3 A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria Balwani, Manisha
33 C p.
 artikel
4 A survey on the patient journey in Fabry disease in Japan Tsurumi, Mina
33 C p.
 artikel
5 Automated urinary sediment detection for Fabry disease using deep-learning algorithms Uryu, Hidetaka
33 C p.
 artikel
6 Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome DeLong, Kathryn
33 C p.
 artikel
7 Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype Yamada, Kenji
33 C p.
 artikel
8 Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4] Kubaski, Francyne
33 C p.
 artikel
9 Dysregulated DNA methylation in the pathogenesis of Fabry disease Shen, Jin-Song
33 C p.
 artikel
10 Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias Ma, Christopher D.
33 C p.
 artikel
11 α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response Consolato, Francesco
33 C p.
 artikel
12 Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease Kaneski, Christine R.
33 C p.
 artikel
13 Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system Kim, Sarah
33 C p.
 artikel
14 Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark Møller, Rikke S.
33 C p.
 artikel
15 Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening Hajji, Hela
33 C p.
 artikel
16 ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction Wolfe, Rachel
33 C p.
 artikel
17 LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots Ohira, Mari
33 C p.
 artikel
18 Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature Priestley, Jessica R.C.
33 C p.
 artikel
19 MPS VII – Extending the classical phenotype Oldham, A.
33 C p.
 artikel
20 Natural history of propionic acidemia in the Amish population Ehrenberg, Sarah
33 C p.
 artikel
21 Newborn screening for Pompe disease in Italy: Long-term results and future challenges Gragnaniello, Vincenza
33 C p.
 artikel
22 Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned Lin, Hsin-Ti
33 C p.
 artikel
23 Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy Yeh, Tsai-Chu
33 C p.
 artikel
24 Plasma porphyrins among end stage renal disease patients and cutaneous symptoms- is there still an association? Goldman, Shira
33 C p.
 artikel
25 Polycystic kidney disease complicates renal pathology in a family with Fabry disease Johar, Leepakshi
33 C p.
 artikel
26 Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data Lah, Melissa
33 C p.
 artikel
27 Reinstitution of pegvaliase therapy during lactation Rohr, Frances
33 C p.
 artikel
28 Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks Pehrsson, Minja
33 C p.
 artikel
29 Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion Ebihara, Tomohiro
33 C p.
 artikel
30 Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots Hong, Xinying
33 C p.
 artikel
31 Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency Meguro, Miyu
33 C p.
 artikel
32 Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme Hahn, Andreas
33 C p.
 artikel
                             32 gevonden resultaten
 
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