Am. J. Hum. Genet. 2020 Jan 17
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequen ...
Read More
Source: PubMed
J. Biol. Chem. 2020 Jan 29
The yeast protein Ubx4p contributes to mitochondrial respiration and lithium-galactose-mediated activation of the unfolded protein response.
De-Souza EA, Pimentel FSA, De-Queiroz ALFV, Camara H, Felix-Formiga ML, Machado CM, Pinto S, Galina A, Mori MA, Montero-Lomelí M, Masuda CA
In the presence of galactose, lithium ions activate the unfolded protein response (UPR) by inhibiting phosphoglucomutase activity and causing the accu ...
Read More
Source: PubMed
J. Pediatr. Gastroenterol. Nutr.
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
The published data on early infantile liver failure (EILF) are scarce and limited to Caucasians. We conducted this study to describe the etiology and ...
Read More
Source: PubMed
ACS Chem. Biol. 2020 Jan 28
Clickable Galactose Analogues for Imaging Glycans in Developing Zebrafish.
Daughtry JL, Cao W, Ye J, Baskin JM
Galactose is one of only nine monosaccharide precursors used to build complex glycans in vertebrates. Defects in galactose metabolism cause galactosem ...
Read More
Source: PubMed
Mol. Genet. Metab. 2020 Jan 09
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM
The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance of prognostic ...
Read More
Source: PubMed
Am. J. Hum. Genet. 2020 Jan 17
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequen ...
Read More
Source: PubMed
J. Biol. Chem. 2020 Jan 29
The yeast protein Ubx4p contributes to mitochondrial respiration and lithium-galactose-mediated activation of the unfolded protein response.
De-Souza EA, Pimentel FSA, De-Queiroz ALFV, Camara H, Felix-Formiga ML, Machado CM, Pinto S, Galina A, Mori MA, Montero-Lomelí M, Masuda CA
In the presence of galactose, lithium ions activate the unfolded protein response (UPR) by inhibiting phosphoglucomutase activity and causing the accu ...
Read More
Source: PubMed
J. Pediatr. Gastroenterol. Nutr.
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
The published data on early infantile liver failure (EILF) are scarce and limited to Caucasians. We conducted this study to describe the etiology and ...
Read More
Source: PubMed
ACS Chem. Biol. 2020 Jan 28
Clickable Galactose Analogues for Imaging Glycans in Developing Zebrafish.
Daughtry JL, Cao W, Ye J, Baskin JM
Galactose is one of only nine monosaccharide precursors used to build complex glycans in vertebrates. Defects in galactose metabolism cause galactosem ...
Read More
Source: PubMed
Mol. Genet. Metab. 2020 Jan 09
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM
The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance of prognostic ...
Read More
Source: PubMed
Am. J. Hum. Genet. 2020 Jan 17
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequen ...
Read More
Source: PubMed
J. Biol. Chem. 2020 Jan 29
The yeast protein Ubx4p contributes to mitochondrial respiration and lithium-galactose-mediated activation of the unfolded protein response.
De-Souza EA, Pimentel FSA, De-Queiroz ALFV, Camara H, Felix-Formiga ML, Machado CM, Pinto S, Galina A, Mori MA, Montero-Lomelí M, Masuda CA
In the presence of galactose, lithium ions activate the unfolded protein response (UPR) by inhibiting phosphoglucomutase activity and causing the accu ...
Read More
Source: PubMed
J. Pediatr. Gastroenterol. Nutr.
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
The published data on early infantile liver failure (EILF) are scarce and limited to Caucasians. We conducted this study to describe the etiology and ...
Read More
Source: PubMed
ACS Chem. Biol. 2020 Jan 28
Clickable Galactose Analogues for Imaging Glycans in Developing Zebrafish.
Daughtry JL, Cao W, Ye J, Baskin JM
Galactose is one of only nine monosaccharide precursors used to build complex glycans in vertebrates. Defects in galactose metabolism cause galactosem ...
Read More
Source: PubMed
Mol. Genet. Metab. 2020 Jan 09
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM
The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance of prognostic ...
Read More
Source: PubMed
Am. J. Hum. Genet. 2020 Jan 17
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequen ...
Read More
Source: PubMed
J. Biol. Chem. 2020 Jan 29
The yeast protein Ubx4p contributes to mitochondrial respiration and lithium-galactose-mediated activation of the unfolded protein response.
De-Souza EA, Pimentel FSA, De-Queiroz ALFV, Camara H, Felix-Formiga ML, Machado CM, Pinto S, Galina A, Mori MA, Montero-Lomelí M, Masuda CA
In the presence of galactose, lithium ions activate the unfolded protein response (UPR) by inhibiting phosphoglucomutase activity and causing the accu ...
Read More
Source: PubMed
J. Pediatr. Gastroenterol. Nutr.
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
The published data on early infantile liver failure (EILF) are scarce and limited to Caucasians. We conducted this study to describe the etiology and ...
Read More
Source: PubMed
ACS Chem. Biol. 2020 Jan 28
Clickable Galactose Analogues for Imaging Glycans in Developing Zebrafish.
Daughtry JL, Cao W, Ye J, Baskin JM
Galactose is one of only nine monosaccharide precursors used to build complex glycans in vertebrates. Defects in galactose metabolism cause galactosem ...
Read More
Source: PubMed
Mol. Genet. Metab. 2020 Jan 09
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM
The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance of prognostic ...
Read More
Source: PubMed
