Research Papers

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Creatine energy substrate increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the context of phenyl…
Dobrowolski SF; Tourkova IL; Larrouture QC; Blair HC.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based stud…
Koto Y; Narita A; Noto S; Okada M; Ono M; Baba T; Sagara R; Sakai N.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children w…
Walkowiak D; Domaradzki J; Mozrzymas R; Korycińska-Chaaban D; Duś-Żuchowska M; Didycz B; Mikołuć B; Walkowiak J.
Mol Genet Metab Rep (Unknown)
Published: 2023
2/6 Transparent
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.
McFadden JR; Tolete CDP; Huang Y; Macnamara E; Sept D; Nesterova G; Gahl WA; Sackett DL; Malicdan MCV.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
Nakamura K; Mukai S; Takezawa Y; Natori Y; Miyazaki A; Ide Y; Takebuchi M; Nanato K; Katoh M; Suzuki H; Sakyu A; Kojima T; Kise E; Hanafusa H; Kosho T; Kuwahara K; Sekijima Y.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II an…
Hong X; Pollard L; He M; Gelb MH; Wood TC.
Mol Genet Metab Rep (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
An <i>in silico</i> approach to identify early damage biomarker candidates in metachromatic leukodystrophy.
Gómez J; Artigas L; Valls R; Gervas-Arruga J.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.
Bozaci AE; Er E; Ünal AT; Taş İ; Ayaz E; Ozbek MN; Durmaz A; Aykut A; Kose M.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver.
González-Moreno L; Santamaría-Cano A; Paradela A; Martínez-Chantar ML; Martín MÁ; Pérez-Carreras M; García-Picazo A; Vázquez J; Calvo E; González-Aseguinolaza G; Saheki T; Del Arco A; Satrústegui J; Contreras L.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experi…
Pan YW; Tsai MC; Yang CY; Yu WH; Wang B; Yang YJ; Chou YY.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction an…
Laoharawee K; Podetz-Pedersen KM; Nguyen TT; Singh SM; Smith MC; Belur LR; Low WC; Kozarsky KF; McIvor RS.
Mol Genet Metab Rep (Unknown)
Published: 2023
2/6 Transparent
Funding Declared
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.
Chapman KA; MacEachern D; Cox GF; Waller M; Fogarty J; Granger S; Stepanians M; Waisbren S.
Mol Genet Metab Rep (Unknown)
Published: 2023
2/6 Transparent
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design…
Turki A; Stockler S; Sirrs S; Duddy K; Ho G; Elango R.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry diseas…
Taguchi A; Ishii S; Mikame M; Maruyama H.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.
Feigenbaum A; Lamale-Smith L; Weinstein L.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbid…
Abbott J; Senzatimore M; Atwal P.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.
Balwani M; Naik H; Overbey JR; Bonkovsky HL; Bissell DM; Wang B; Phillips JD; Desnick RJ; Anderson KE.
Mol Genet Metab Rep (Unknown)
Published: 2022
4/6 Transparent
Registered Funding Declared
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the ab…
Hajji H; Imbard A; Spraul A; Taibi L; Barbier V; Habes D; Brassier A; Arnoux JB; Bouchereau J; Pichard S; Sissaoui S; Lacaille F; Girard M; Debray D; de Lonlay P; Schiff M.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Data
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein res…
Consolato F; De Fusco M; Schaeffer C; Pieruzzi F; Scolari F; Gallieni M; Lanzani C; Feriozzi S; Rampoldi L.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.
Wolfe R; Heiman P; D'Annibale O; Karunanidhi A; Powers A; Mcguire M; Seminotti B; Dobrowolski SF; Reyes-Múgica M; Torok KS; Mohsen AW; Vockley J; Ghaloul-Gonzalez L.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V; Pijnappel PWWM; Burlina AP; In 't Groen SLM; Gueraldi D; Cazzorla C; Maines E; Polo G; Salviati L; Di Salvo G; Burlina AB.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Plasma porphyrins among end stage renal disease patients and cutaneous symptoms- is there still an association?
Goldman S; Zidan O; Edel Y; Schechter A; Mimouni T; Hodak E; Cohen S; Mamet R; Rozen-Zvi B; Levi A.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Dysregulated DNA methylation in the pathogenesis of Fabry disease.
Shen JS; Balaji U; Shigeyasu K; Okugawa Y; Jabbarzadeh-Tabrizi S; Day TS; Arning E; Marshall J; Cheng SH; Gu J; Schiffmann R; Bottiglieri T; Goel A.
Mol Genet Metab Rep (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Automated urinary sediment detection for Fabry disease using deep-learning algorithms.
Uryu H; Migita O; Ozawa M; Kamijo C; Aoto S; Okamura K; Hasegawa F; Okuyama T; Kosuga M; Hata K.
Mol Genet Metab Rep (Unknown)
Published: 2022
5/6 Transparent
Data Code Funding Declared
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: …
Lah M; Cook K; Gomes DA; Liu S; Tabatabaeepour N; Kirson N; Chen E; Lindstrom K; Whitehall KB; Van Backle J; Burton BK.
Mol Genet Metab Rep (Unknown)
Published: 2022
2/6 Transparent
Funding Declared