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1987 1
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Page 1
Pediatric Cataract.
Ray A, Gurnani B. Ray A, et al. 2026 Jan 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2026 Jan 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 34283446 Free Books & Documents.
Effective management remains challenging because prevention of irreversible amblyopia depends on early identification, timely diagnosis, and prompt intervention. Population-based vision screening programs and caregiver recognition of early signs, such …
Effective management remains challenging because prevention of irreversible amblyopia depends on early identification, timely diag …
Galactosaemia.
Sardharwalla IB, Wraith JE. Sardharwalla IB, et al. Nutr Health. 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. Nutr Health. 1987. PMID: 3328119 Review.
Early observations suggest that the prognosis is likely to be poor even in those patients diagnosed and treated soon after birth. Classical galactosaemia leads to a number of long term complications. The prognosis for normal mental development i …
Early observations suggest that the prognosis is likely to be poor even in those patients diagnosed and treated soon after bir …
GALT Deficiency Galactosemia.
Anderson S. Anderson S. MCN Am J Matern Child Nurs. 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388. MCN Am J Matern Child Nurs. 2018. PMID: 29215423
This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the condi …
This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. …
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Lak R, et al. Cochrane Database Syst Rev. 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. Cochrane Database Syst Rev. 2020. PMID: 32567677 Free PMC article.
The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. ...SELECTION CRITERIA: Randomised controlled studies and con …
The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia …
Long-term complications in classic galactosemia are not progressive.
Smith NH, Hendrickson ET, Garrett OS, Chernoff RA, Orloff DH, Druss JJ, Stettner NM, Paull NH, Fridovich-Keil JL. Smith NH, et al. Mol Genet Metab. 2023 Nov;140(3):107708. doi: 10.1016/j.ymgme.2023.107708. Epub 2023 Oct 11. Mol Genet Metab. 2023. PMID: 37866059 Free PMC article.
Despite early detection and life-long dietary restriction of galactose, which is the current standard of care, many patients with CG grow to experience a range of long-term developmental complications that can include difficulties with speech/voice/lan …
Despite early detection and life-long dietary restriction of galactose, which is the current standard of care, many patients w …
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S. Almenabawy N, et al. Mol Genet Metab Rep. 2024 Jan 25;38:101055. doi: 10.1016/j.ymgmr.2024.101055. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469090 Free PMC article.
To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we performed a retrospective cohort study in our center. ...CONCLUSION: It seems that newborn screening and early administration of a galactose-lactose-free …
To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we performed a retrospective co …
Long-term speech and language developmental issues among children with Duarte galactosemia.
Powell KK, Van Naarden Braun K, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M. Powell KK, et al. Genet Med. 2009 Dec;11(12):874-9. doi: 10.1097/GIM.0b013e3181c0c38d. Genet Med. 2009. PMID: 19904210 Free article.
PURPOSE: : There is limited information on long-term outcomes among children with Duarte galactosemia and controversy about treatment of this potentially benign condition. This study examined developmental disabilities and issues that required special …
PURPOSE: : There is limited information on long-term outcomes among children with Duarte galactosemia and contro …
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.
What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and long-term outcomes of 12 patients homozygous for S135L, 25 patients compound he …
What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, …
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Lak R, et al. Cochrane Database Syst Rev. 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. Cochrane Database Syst Rev. 2017. Update in: Cochrane Database Syst Rev. 2020 Jun 22;6:CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 29274129 Free PMC article. Updated.
The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. ...SELECTION CRITERIA: Randomised controlled studies and con …
The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia …
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. Chen HA, et al. Mol Genet Metab Rep. 2024 Jan 10;38:101048. doi: 10.1016/j.ymgmr.2024.101048. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469088 Free PMC article.
BACKGROUND: Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. ...While these newly discovered forms often present with milder initial elevations in TGal, specific biochemical investigations and regular monitoring are essentia …
BACKGROUND: Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. ...While these newly di …
40 results