Research Papers

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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and …
Guelbert N; Espitia Segura OM; Amoretti C; Arteaga Arteaga A; Atanacio NG; Bazan Natacha S; Carvalho EDF; Carvalho de Andrade MDF; Denzler IM; Durand C; Ribeiro E; Giugni JC; González G; González Moron D; Guelbert G; Hernández Rodriguez ZJ; Embiruçu Emilia K; Kauffman MA; Mancilla NI; Marcon L; Marques Pereira A; Fischinger Moura de Souza C; Muñoz VA; Naranjo Flórez RA; Pessoa AL; Ruiz MV; Solano Villareal ML; Spécola N; Tavera LM; Tello J; Troncoso Schifferli M; Ugrina S; Vaccarezza MM; Vergara D; Villanueva MM.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D; Kingma SDK; Jonckheere AI; Smeets-Peels CS; Gomes DC; Duro J; Oliveira A; Matthijs G; Steinbusch LKM; Jaeken J; Rivera I; Rubio-Gozalbo E.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
A novel <i>GATA3</i> frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrom…
Huang B; Li S; Chai Y; Fan Y; Li X; Liu Y; Fu Y; Song X; Cui J.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a s…
Almenabawy N; Bahl S; Ostlund AL; Ghai-Jain S; Sosova I; Chan A; Mercimek-Andrews S.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Data
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.
Chen HA; Hsu RH; Chen LC; Lee NC; Chiu PC; Hwu WL; Chien YH.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and <i>in vivo</i> brain proton MR…
Marten LM; Krätzner R; Salomons GS; Fernandez Ojeda M; Dechent P; Gärtner J; Huppke P; Dreha-Kulaczewski S.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).
Scala I; Brodosi L; Rovelli V; Noto D; Burlina A.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin …
Mathis D; Koch J; Koller S; Sauter K; Flück C; Uldry AC; Forny P; Froese DS; Laemmle A.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
New mutations identified in a case of Glycogenin-1 deficiency.
Pruvost R; Csanyi M; Lefebvre G; Biancalana V; Malfatti E; Cassim F; Oldfors C; Defebvre L; Oldfors A; Tard C.
Mol Genet Metab Rep (Unknown)
Published: 2024
2/6 Transparent
Letter to the Editors: Concerning "Hyperleucinosis during infections in maple syrup urine disease post-liver transplant…
Takano C; Ogawa E; Arai-Ichinoi N; Ishige M.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirm…
Khan AR; Al-Enazi S; Al-Gahtani A; Al-Zahrani S; Saad SM; Khan KM; Alothaim A.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart r…
Pulikottil-Jacob R; Dehipawala S; Smith B; Athavale A; Gusto G; Chandak A; Khachatryan A; Banon T; Fournier M; Guillonneau S; Pollissard L; Munoz-Rojas MV.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Kelly NR; Orsini JJ; Goldenberg AJ; Mulrooney NS; Boychuk NA; Clarke MJ; Paleologos K; Martin MM; McNeight H; Caggana M; Bailey SM; Eiland LR; Ganesh J; Kupchik G; Lumba R; Nafday S; Stroustrup A; Gelb MH; Wasserstein MP.
Mol Genet Metab Rep (Unknown)
Published: 2023
4/6 Transparent
Registered Funding Declared
Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis ty…
Hurt SC; Vera MU; Le SQ; Kan SH; Bui Q; Dickson PI.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z; Mehrzadeh A; Hashemi N; Geramizadeh B.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family an…
Huang WL; Steenari MR; Barrick R; Simon MT; Chang R; Eftekharian SS; Stover A; Schwartz PH; Latini A; Abdenur JE.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A different perspective into clinical symptoms in CPT I deficiency.
Balci MC; Karaca M; Selamioglu A; Korbeyli HK; Durmus A; Ak B; Kozanoglu T; Gokcay GF.
Mol Genet Metab Rep (Unknown)
Published: 2023
2/6 Transparent
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models.
Tuyaa-Boustugue P; Jantzen I; Zhang H; Young SP; Broqua P; Tallandier M; Entchev E.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The diagnostic journey for patients with late-onset GM2 Gangliosidoses.
Lopshire MC; Tifft C; Burns J; Gould R; Zheng R; Batsu I.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological invo…
Lau H; Harmatz P; Botha J; Audi J; Link B.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study.
Viau K; Martell L; Wessel A; Rohr F; Hollander S; Putman MS; Sacharow S.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II.
Yamazaki N; Ohira M; Takada S; Ohtake A; Onodera M; Nakanishi M; Okuyama T; Mashima R.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Rahhal S; Farmer C; Thurm A; Wassif CA; Cawley NX; Perreault J; Dang Do A; Bianconi S; Hannah-Shmouni F; Guthrie W; Cubit LS; Miller JS; Sutton VR; Koeberl D; Porter FD.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectr…
Van Baelen A; Roosens L; Devos S; Verhulst S; Eyskens F.
Mol Genet Metab Rep (Unknown)
Published: 2023
2/6 Transparent
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.
Rovelli V; Ercoli V; Dionigi AR; Paci S; Salvatici E; Zuvadelli J; Banderali G.
Mol Genet Metab Rep (Unknown)
Published: 2023
3/6 Transparent
Funding Declared