Biomarkers of ovarian function in girls and women with classic galactosemia [PDF]
, 2008 Rebecca Sanders +6 more
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Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report. [PDF]
Medicina (Kaunas), 2023 Rosca I +8 more
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Desordens no metabolismo dos aminoácidos [PDF]
, 2013 Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências FarmacêuticasOs erros inatos do metabolismo consistem numa condição genética em que ocorre uma mutação ...
Costa, Sofia Ferreira da
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Demonstration of an Accumulation of Galactose-1-Phosphate in the Liver from Congenital Galactosemia
, 1962 Keiya Tada
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Long-term speech and language developmental issues among children with Duarte galactosemia [PDF]
, 2009 Kimberly K. Powell +5 more
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Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model. [PDF]
J Inherit Metab Dis, 2023 Druss JJ +3 more
europepmc +1 more source
The Isolation and Identification of Galactitol from the Brains of Galactosemia Patients
, 1965 William W. Wells +3 more
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Abnormal N‐glycan fucosylation, galactosylation, and sialylation of
, 2021 Eileen P. Treacy +11 more
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The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan. [PDF]
Int J Neonatal Screen, 2021 Kikuchi A, Wada Y, Ohura T, Kure S.
europepmc +1 more source
The Isolation and Identification of Galactitol from the Urine of Patients with Galactosemia
, 1964 William W. Wells +2 more
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