Mol Genet Metab Rep
Mol Genet Metab Rep
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467
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Last Updated: Aug 05, 2025
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View All 467 PapersA 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.
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, Carvalh…
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.
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.
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.
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-Kulacz…
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.
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, St…
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…
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.