Research Papers

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Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers.
Kruger E; Voorhees K; Thomas N; Judge M; Galla J; Kung J; Rodriguez D.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Data Funding Declared
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey.
Inagaki N; Tsuchiya M; Otani K; Nakayama T.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.
Chen HA; Hsu RH; Chen PW; Lee NC; Chiu PC; Hwu WL; Chien YH.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
A survey on the patient journey in Fabry disease in Japan.
Tsurumi M; Ozaki A; Eto Y.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Newborn screening for spinal muscular atrophy in Japan: One year of experience.
Sawada T; Kido J; Sugawara K; Yoshida S; Ozasa S; Nomura K; Okada K; Fujiyama N; Nakamura K.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Lactulose: A treatment for hyperammonemia in a lysinuric protein-intolerant patient with dynamic blood amino acid conce…
Kakisaka K; Sato T; Wada Y; Ito A; Eto H; Abe H; Kanazawa J; Yusa K; Kooka Y; Endo K; Yoshida Y; Oikawa T; Kuroda H; Miyasaka A; Akasaka M; Matsumoto T.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Funding Declared
Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.
Ridova N; Trajkova S; Chonevska B; Stojanoski Z; Ivanovski M; Popova-Labachevska M; Stojanovska-Jakimovska S; Filipche V; Sofijanova A; Panovska-Stavridis I.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogena…
Tsai AC; Lin HT; Chou M; Bolen J; Zimmerman C; DeMarzo D; Enchautegui-Colon Y.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Funding Declared
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-r…
Wanner C; Kimonis V; Politei J; Warnock DG; Üçeyler N; Frey A; Cornelisse P; Hughes D.
Mol Genet Metab Rep (Unknown)
Published: 2022
4/6 Transparent
Registered Funding Declared
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
Sohn YB; Rogers C; Stallworth J; Cooley Coleman JA; Buch L; Jozwiak E; Johnson JA; Wood T; Harmatz P; Pollard L; Louie RJ.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advoca…
Regier DS; Bąk A; Bausell H; O'Reilly E; Cowsert LM.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Mutation spectrum of <i>ATP7B</i> gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM; Hoa NPA; Ngoc ND; Mai NTP; Yen PH; Anh HTV; Hoa G; Dien TM.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate tr…
Veenvliet ARJ; Garrelfs MR; Udink Ten Cate FEA; Ferdinandusse S; Denis S; Fuchs SA; Schwantje M; Geurtzen R; van Wegberg AMJ; Huigen MCDG; Kluijtmans LAJ; Wanders RJA; Derks TGJ; de Boer L; Houtkooper RH; de Vries MC; van Karnebeek CDM.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported o…
Tseng LA; Teela L; Janssen MC; Bok LA; Willemsen MAAP; Neuteboom RF; Haverman L; Gospe SM; Coughlin CR; van Karnebeek CDM.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using…
Cunningham G; Zhou Y; Summar M.
Mol Genet Metab Rep (Unknown)
Published: 2022
1/6 Transparent
Increased atherosclerosis in a mouse model of glycogen storage disease type 1a.
La Rose AM; Groenen AG; Halmos B; Bazioti V; Rutten MGS; Krishnamurthy KA; Koster MH; Kloosterhuis NJ; Smit M; Havinga R; Mithieux G; Rajas F; Kuipers F; Oosterveer MH; Westerterp M.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from …
Maldonado R; Jalil S; Keskinen T; Nieminen AI; Hyvönen ME; Lapatto R; Wartiovaara K.
Mol Genet Metab Rep (Unknown)
Published: 2022
4/6 Transparent
Data Funding Declared
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural…
Tsygankova P; Bychkov I; Minzhenkova M; Pechatnikova N; Bessonova L; Buyanova G; Naumchik I; Beskorovainiy N; Tabakov V; Itkis Y; Shilova N; Zakharova E.
Mol Genet Metab Rep (Unknown)
Published: 2022
4/6 Transparent
Data Funding Declared
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma usi…
Civallero G; Kubaski F; Pereira D; Rübensam G; Herbst ZM; Silva C; Trapp FB; Poletto E; Faqueti L; Iop G; Soares J; van der Linden V; van der Linden H; Lourenço CM; Giugliani R.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Funding Declared
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric pa…
Bösch F; Landolt MA; Baumgartner MR; Fernandez S; Forny P; Gautschi M; Grünert SC; Häberle J; Horvath C; Karall D; Lampis D; Rohrbach M; Scholl-Bürgi S; Szinnai G; Huemer M.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Reduced α-galactosidase A activity in zebrafish (<i>Danio rerio)</i> mirrors distinct features of Fabry nephropathy phe…
Elsaid HOA; Furriol J; Blomqvist M; Diswall M; Leh S; Gharbi N; Anonsen JH; Babickova J; Tøndel C; Svarstad E; Marti HP; Krause M.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Newborn screening for Gaucher disease in Japan.
Sawada T; Kido J; Sugawara K; Yoshida S; Matsumoto S; Shimazu T; Matsushita Y; Inoue T; Hirose S; Endo F; Nakamura K.
Mol Genet Metab Rep (Unknown)
Published: 2022
4/6 Transparent
Data Funding Declared
Hearing loss in fabry disease: A 16 year follow-up study of the Danish nationwide cohort.
Yazdanfard PDW; Effraimidis G; Madsen CV; Nielsen LH; Rasmussen ÅK; Petersen JH; Sørensen SS; Køber L; de Abreu VHF; Larsen VA; Feldt-Rasmussen U.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pai…
Grant N; Sohn YB; Ellinwood NM; Okenfuss E; Mendelsohn BA; Lynch LE; Braunlin EA; Harmatz PR; Eisengart JB.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Funding Declared
<i>LPIN1</i> rhabdomyolysis: A single site cohort description and treatment recommendations.
Kanderi N; Kirmse B; Regier DS; Chapman KA.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent