Results 121 to 130 of about 1,934 (207)

Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India [PDF]

, 2015
Vignesh Gopalakrishnan, Kriti Joshi, Shubha R. Phadke, Preeti Dabadghao, Meenal Agarwal, Vinita Das, Suruchi Jain, Sanjay Gambhir, Bhaskar Gupta, Amita Pandey, Deepa Kapoor, Mala Kumar, Vijayalakshmi Bhatia   +12 more
openalex   +1 more source

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report. [PDF]

BMC Infect Dis
Lin J, Wu J, Gong L, Li X, Wang G.
europepmc   +1 more source

The Importance of Neonatal Screening for Galactosemia. [PDF]

Nutrients, 2022
Badiu Tișa I, Achim AC, Cozma-Petruț A.   +2 more
europepmc   +1 more source

Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia [PDF]

, 2018
Shawn E. McCandless
openalex   +1 more source

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. [PDF]

BMC Pediatr
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML.   +9 more
europepmc   +1 more source

Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment. [PDF]

Nutrients, 2023
Milner D, Boyle F, McNulty J, Knerr I.
europepmc   +1 more source

Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature [PDF]

, 2019
Judith L. Fridovich‐Keil, Grace Carlock, Claire D. Coles, Mary Ellen Lynch, Molly Millians, Nancy L. Potter, Kimberly K. Powell, Peter Richards, Rani H. Singh, Angela Wittenauer   +9 more
openalex   +1 more source

GALT Protein Database, a Bioinformatics Resource for the Management and Analysis of Structural Features of a Galactosemia-Related Protein and Its Mutants

, 2009
Antonio d’Acierno, Angelo Facchiano, Anna Marabotti   +2 more
openalex   +1 more source

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method [PDF]

, 2019
Daffodil M. Canson, Catherine Lynn T. Silao, Salvador Eugenio C. Caoili   +2 more
openalex   +1 more source

Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia. [PDF]

BMJ Case Rep, 2021
Khoury B, Shakir MK, Hoang TD.
europepmc   +1 more source