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galactosemia

Synonyms

Noun

1. inborn error of metabolism

Usage
Why pharma is still far from a treatment for galactosemia - Clinical Trials Arena
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience - Wiley Online Library
Monosaccharides improve symptoms of an animal model for type III galactosemia, through the activation of the insulin pathway - ScienceDirect.com
FDA Issues CRL for Govorestat Application As Treatment for Classic Galactosemia - NeurologyLive
FDA Denies Approval of Govorestat for Classic Galactosemia - Endocrinology Advisor
Wait for galactosemia therapy goes on after FDA shuns Applied Therapeutics’ govorestat - Pharmaceutical Technology
Applied’s rare disease drug rejected by FDA - BioPharma Dive
Applied Therapeutics Receives Complete Response Letter from - GlobeNewswire
Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots - Frontiers
(PDF) Galactosemia: Towards Pharmacological Chaperones - ResearchGate
Applied Therapeutics Crashes After FDA Rejection of Rare Disease Drug - BioSpace
FDA Rejects Applied Therapeutics' Govorestat for Classic Galactosemia Treatment - Stock Titan
US FDA declines to approve Applied Therapeutics' genetic disease drug - Reuters
Applied Therapeutics Drug Is Denied FDA Approval in Rare Inherited Metabolic Disease - MedCity News
Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report - BMC Infectious Diseases
Applied Therapeutics plummets after FDA rejects govorestat - FirstWord
Applied Therapeutics Provides Regulatory Update on Govorestat for the Treatment of Classic Galactosemia - GlobeNewswire
FDA Action Alert: Applied Therapeutics Awaits Verdict on Rare Disease Therapy - BioSpace
Applied Therapeutics Reports Third Quarter 2024 Financial Results - GlobeNewswire
Applied Therapeutics Stock Plummets After FDA Rejects Metabolic Disease Drug - Investopedia
APLT Stock Plunges 77% After FDA Issues CRL for Galactosemia Drug NDA - Yahoo Finance
(PDF) Acute and early developmental outcomes of children with Duarte galactosemia - ResearchGate
StockWatch: FDA Surprise Lifts Expectations for Applied’s Govorestat - Genetic Engineering and Biotechnology News
Applied Therapeutics' trial conduct scrutinized in FDA warning letter - Fierce Biotech
Applied Therapeutics Provides Regulatory Update on Govorestat for the Treatment of Classic Galactosemia - Stock Titan
FDA Rejects Applied Therapeutics' NDA for Govorestat, Citing Flaws; Shares Plunge 76% - Yahoo Finance
Complete Response Letter, Warning Letter and Shareholder Lawsuit Follow FDA Data Integrity Findings - JD Supra
FDA rejects Applied filing for rare disease approval on clinical grounds, sinking stock - Fierce Biotech
Applied Thera tanks, as FDA slaps CRL on govorestat NDA - The Pharma Letter
Applied Therapeutics gets FDA warning letter over study of rejected rare disease drug - Endpoints News
(PDF) The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening - ResearchGate
Applied Therapeutics: Strong Buy With AT-007 Nearing Approval For Galactosemia (APLT) - Seeking Alpha
Acute and early developmental outcomes of children with Duarte galactosemia - Fridovich‐Keil - 2022 - JIMD Reports - Wiley Online Library
Study brings clarity about milk intake for children with Duarte galactosemia - News-Medical
(PDF) An Infant with Galactosemia: A Case Report - ResearchGate
Sweet and sour: an update on classic galactosemia - Coelho - 2017 - Journal of Inherited Metabolic Disease - Wiley Online Library
FDA extends review period for govorestat to treat classic galactosemia - Contemporary Pediatrics
New Resource for the Galactosemia Community Launches to Empower Families as They Navigate Lifelong Genetic Disease - Business Wire
FDA Requests Clinical Outcomes Data for Galactosemia Treatment - Medical Professionals Reference
Long-term speech and language developmental issues among children with Duarte galactosemia - Nature
Editorial: Inborn errors of carbohydrate metabolism - Frontiers
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia - Nature
Biallelic GALM pathogenic variants cause a novel type of galactosemia - Nature
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study - Nature
Developmental Outcomes in Duarte Galactosemia | Pediatrics | American Academy of Pediatrics - publications.aap.org
The Leloir pathway of galactose metabolism. ADP, adenosine diphosphate;... | Download Scientific Diagram - ResearchGate
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia - Wiley Online Library
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways - Wiley Online Library
FDA Extends Review Period for Applied Therapeutics’ Govorestat by Three Months - BioSpace
Galactosemia Foundation Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Children with Life-Altering Rare Disease - PR Newswire
Applied Therapeutics Announces MAA Validation and NDA - GlobeNewswire
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia - Nature
Low prevalence of classical galactosemia in Korean population - Nature
Applied Therapeutics Seeks NDA for Rare Pediatric Disease Drug Despite Phase III Failure - BioSpace
Represents the standard Leloir pathway - ResearchGate
Sanger sequencing confirmed that the patient was a compound... - ResearchGate
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia - Wiley Online Library
Verbal Dyspraxia and Galactosemia - Nature
Galactokinase deficiency: lessons from the GalNet registry - Nature
Molecular characterization of novel and rare DNA variants in patients with galactosemia - Frontiers
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model - Nature
Galactosemia…what is it? Family shares story of daughters rare disease - WLNS 6 News
Study aims to prevent children’s speech and language disorders before they start - ASU News
Positive galactosemia newborn screening and following diagnostic... - ResearchGate
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia - Nature
Galactosemia Treatment Market Expected to Double by 2032, Projected Growth at 6.8% CAGR | Marketrese - PharmiWeb.com
Applied Therapeutics fails phase 3 rare disease trial but plans to seek approval anyway - Fierce Biotech
FDA decision delay for Applied Tx rare disease drug sends biotech's stock tumbling after hours - Fierce Biotech
Infant With Rare Disorder Saved After Lab-Tech Braves Boston Snow - ABC News
Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia - Nature
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia - Frontiers
Fig. 1 The pedigree of the patient - ResearchGate
Classical galactosaemia: novel insights in IgG N -glycosylation and N -glycan biosynthesis - Nature
Mutations at the Galactose-1-P-Uridyltransferase Gene in Infants with a Positive Galactosemia Newborn Screening Test - Nature
Fig. 2 Classic, Duarte, and false positive rates from galactosemia... - ResearchGate
Fig. 2 Urine gas chromatography/mass spectrometry (urine GC/MS) showed... - ResearchGate
Congenital Cataracts - Consultant360
FDA extends review period for Applied Therapeutics’ govorestat NDA - Pharmaceutical Technology
Fig. 1. Frequencies of presenting symptoms and signs of studied cohort... - ResearchGate
Oil-droplet cataract in galactosemia. - ResearchGate
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia - Wiley Online Library
US FDA extends review of Applied Therapeutics' genetic disease drug - Reuters
Table 2 : Presentation data, GALT activity and mutation type of... - ResearchGate
Rare Disease Day 2024: Cystic Fibrosis to Galactosemia, know ways to manage rare diseases in newborns - India TV News
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase ( GALT ) gene - Nature
Table 2 Newborn screening testing strategies of respondent state labs - ResearchGate
Galactosemia: The good, the bad, and the unknown - Wiley Online Library
AAFP Releases Position Paper on Breastfeeding - American Academy of Family Physicians | AAFP
Fig. 2 Electropherograms of the GALK1 mutations identified in the... - ResearchGate
Pedigree of the patient family. Spontaneous abortus. The arrow indicates the index case (Patient 1) - ResearchGate
Fig. 5 Relationship between Gal-1P and GALT activity levels detected on... - ResearchGate
East York family raising money for galactosemia research - Toronto.com
Hillsboro non-profit Azrael's Wish will host fundraiser for galactosemia Sunday - OregonLive.com
Leloir pathway of galactose metabolism. GALT deficiency leads to... - ResearchGate
Liver Transplant Successfully Conducted On 23-Day-Old Baby Diagnosed With Galactosemia - TheHealthSite
Figure 2. Gas chromatography-mass spectrometry demonstrates an increase... - ResearchGate
Video stills of two movies generated to examine the structure of GALT... - ResearchGate
-Data for the 7 out of 25 000 infants with abnormal results of one or both of the screening tests Results of screening - ResearchGate
Table 1 : Clinical features at diagnosis - ResearchGate
Positive G6PD deficiency newborn screening and following diagnostic... - ResearchGate
Foreign Language Equivalents
Foreign Language Equivalents of 'galactosemia'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
galactosmia,   galacctosemia,   galactoemia,   galacosemia,   galacyosemia,   galactosema,   galactpsemia,   gaalctosemia,   aglactosemia,   galactoseia,   galacotsemia,   galactsemia,   galactosemi,   galactosemis,   galactoseemia,   galacrosemia,   gaactosemia,   galactodemia,   galactossemia,   galactoseima,   galacttosemia,   galactosrmia,   galactisemia,   galatosemia,   galactoosemia,   galactosemoa,   halactosemia,   galactosenia,   gaalactosemia,   galactosemmia,   galatcosemia,   galactoesmia,   gakactosemia,   ga;actosemia,   galaactosemia,   galactosemiaa,   alactosemia,   galactosemiia,   galactosmeia,   galactsoemia,   galactosemua,   glactosemia,   galaxtosemia,   galactoaemia,   galactose,ia,   galsctosemia,   falactosemia,   gallactosemia,   galactosemai,   galcatosemia,   ggalactosemia,   galctosemia,   galactoswmia,   galavtosemia,   gslactosemia,   glaactosemia
Words Starting with Letter - 'A'
a a battery a billion
a bit a bit much a capella singing
a cappella singing a couple of a few
a fortiori a good deal a great deal
a horizon a hundred a hundred and one
a hundred thousand a hundred times a kempis
a la carte a la mode a level
a little a lot a million
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