GeneralConnection.com ➔ Dictionary
Dictionary Search

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
FDA Issues CRL for Govorestat Application As Treatment for Classic Galactosemia - NeurologyLive
Monosaccharides improve symptoms of an animal model for type III galactosemia, through the activation of the insulin pathway - ScienceDirect.com
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
Contraindications to Breastfeeding - Centers for Disease Control and Prevention | CDC (.gov)
Applied Therapeutics Crashes After FDA Rejection of Rare Disease Drug - BioSpace
FDA Rejects Applied Therapeutics' Govorestat for Classic Galactosemia Treatment - Stock Titan
Applied Therapeutics Drug Is Denied FDA Approval in Rare Inherited Metabolic Disease - MedCity News
US FDA declines to approve Applied Therapeutics' genetic disease drug - Reuters
(PDF) Acute and early developmental outcomes of children with Duarte galactosemia - researchgate.net
Applied Therapeutics Stock Plummets After FDA Rejects Metabolic Disease Drug - Investopedia
Applied Therapeutics plummets after FDA rejects govorestat - FirstWord Pharma
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
Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots - Frontiers
APLT Stock Plunges 77% After FDA Issues CRL for Galactosemia Drug NDA - Yahoo Finance
Applied still pursuing govorestat approval for CMT-SORD, despite late-stage miss - FirstWord Pharma
Applied's rare disease drug suffers another phase 3 failure months after FDA rejection - Fierce Biotech
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
Many Voices, One Vision | Newborn Screening - Centers for Disease Control and Prevention | CDC (.gov)
FDA scraps adcomm for Applied's rare disease drug ahead of November decision - Fierce Biotech
FDA rejects Applied filing for rare disease approval on clinical grounds, sinking stock - Fierce Biotech
Complete Response Letter, Warning Letter and Shareholder Lawsuit Follow FDA Data Integrity Findings - JD Supra
FDA declines to approve Applied Therapeutics' genetic disease drug govorestat - CNBC
Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report - BMC Infectious Diseases
Study brings clarity about milk intake for children with Duarte galactosemia - News-Medical
Sweet and sour: an update on classic galactosemia - Coelho - 2017 - Journal of Inherited Metabolic Disease - Wiley Online Library
Mumbai News: 4-Day-Old Infant Recovers From Rare Genetic Disorder Galactosemia At Mira Road Hospital - Free Press Journal
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
(PDF) An Infant with Galactosemia: A Case Report - researchgate.net
A founder noncoding GALT variant interfering with splicing causes galactosemia - Wiley Online Library
Long-term speech and language developmental issues among children with Duarte galactosemia - Nature
FDA Requests Clinical Outcomes Data for Galactosemia Treatment - Medical Professionals Reference
Biallelic GALM pathogenic variants cause a novel type of galactosemia - Nature
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia - Nature
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways - Wiley Online Library
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
Developmental Outcomes in Duarte Galactosemia - AAP
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia - Wiley Online Library
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia - Nature
Applied Therapeutics Seeks NDA for Rare Pediatric Disease Drug Despite Phase III Failure - BioSpace
Low prevalence of classical galactosemia in Korean population - Nature
World map of countries screening for galactosemia in neonates.⁹¹ - researchgate.net
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study - Nature
Table 5 : Strategies for monitoring patients with classic galactosemia... - researchgate.net
Table 1 Clinical summary of patients with galactosemia and results of... - researchgate.net
Verbal Dyspraxia and Galactosemia - Nature
FDA Extends Review Period for Applied Therapeutics’ Govorestat by Three Months - BioSpace
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model - Nature
Applied Therapeutics: Strong Buy With AT-007 Nearing Approval For Galactosemia (APLT) - Seeking Alpha
Molecular characterization of novel and rare DNA variants in patients with galactosemia - Frontiers
Galactokinase deficiency: lessons from the GalNet registry - Nature
Positive galactosemia newborn screening and following diagnostic... - researchgate.net
FDA pumps brakes on Applied's govorestat, seeks more time for review - FirstWord Pharma
The Leloir pathway of galactose metabolism. ADP, adenosine diphosphate;... - researchgate.net
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia - Nature
Classical galactosaemia: novel insights in IgG N -glycosylation and N -glycan biosynthesis - Nature
Table 6 : Strategies for monitoring patients with classic galactosemia... - researchgate.net
Infant With Rare Disorder Saved After Lab-Tech Braves Boston Snow - ABC News
Applied Therapeutics fails phase 3 rare disease trial but plans to seek approval anyway - Fierce Biotech
Galactosemia Treatment Market Expected to Double by 2032, Projected Growth at 6.8% CAGR | Marketrese - PharmiWeb.com
FIGURE 1 (A) Number of male and female cases of galactosemia associated... - researchgate.net
FDA decision delay for Applied Tx rare disease drug sends biotech's stock tumbling after hours - Fierce Biotech
Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia | Pediatric Research - Nature
Fig. 1 The pedigree of the patient - researchgate.net
Summary of reported galactose in various foods and ingredients. - researchgate.net
Fig. 1. Diagnostic Flowchart for Galactosemia Screening and Management.... - researchgate.net
Editorial: Inborn errors of carbohydrate metabolism - Frontiers
Applied Therapeutics Reports Fourth Quarter and Year-End 2020 Financial Results - Yahoo Finance
Congenital Cataracts - Consultant360
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations - Nature
Mutations at the Galactose-1-P-Uridyltransferase Gene in Infants with a Positive Galactosemia Newborn Screening Test - Nature
Table 2 : Presentation data, GALT activity and mutation type of... - researchgate.net
Fig. 1. Frequencies of presenting symptoms and signs of studied cohort... - researchgate.net
Galactose metabolism pathways; Leloir, oxidative and reductive galactose degradation pathways. - researchgate.net
Fig. 2 Classic, Duarte, and false positive rates from galactosemia... - researchgate.net
Galactose‐Induced Skin Aging: The Role of Oxidative Stress - Wiley Online Library
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia - Frontiers
Oil-droplet cataract in galactosemia. - researchgate.net
Fig. 2 Urine gas chromatography/mass spectrometry (urine GC/MS) showed... - researchgate.net
Mutations detected in the GALT gene in 56 Turkish patients with galactosemia - researchgate.net
Rare Disease Day 2024: Cystic Fibrosis to Galactosemia, know ways to manage rare diseases in newborns - India TV News
Representative hydrophilic interaction ultraperformance liquid... - researchgate.net
Represents the standard Leloir pathway - researchgate.net
Fig. 2 Electropherograms of the GALK1 mutations identified in the... - researchgate.net
Schematic illustration of the clinical phenotype in patients with... - researchgate.net
Sanger sequencing confirmed that the patient was a compound... - researchgate.net
Table 2 Newborn screening testing strategies of respondent state labs - researchgate.net
Rare Disease Day: Three children's struggles shed light on rare genetic disorders - CBS News
Pedigree of the patient family. Spontaneous abortus. The arrow indicates the index case (Patient 1) - researchgate.net
East York family raising money for galactosemia research - Toronto.com
Figure 1. Hypergonadotropic hypogonadism and altered signaling pathways... - researchgate.net
Fig. 5 Relationship between Gal-1P and GALT activity levels detected on... - researchgate.net
Foreign Language Equivalents
Foreign Language Equivalents of 'galactosemia'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
galactoseia,   galacotsemia,   glactosemia,   galactosemoa,   galactisemia,   gaalctosemia,   gaactosemia,   falactosemia,   gallactosemia,   galactoesmia,   galactosemis,   galactosenia,   galavtosemia,   glaactosemia,   gslactosemia,   galacyosemia,   galaxtosemia,   galactosemi,   galactsemia,   galactoosemia,   galactosemmia,   galactpsemia,   ggalactosemia,   galactosemiia,   galacctosemia,   ga;actosemia,   galactosrmia,   gakactosemia,   galsctosemia,   galaactosemia,   galactoaemia,   halactosemia,   galactsoemia,   galactoseima,   galctosemia,   galactoswmia,   galactodemia,   galactosmia,   galactose,ia,   galactosemiaa,   galactoemia,   alactosemia,   galacosemia,   galatosemia,   galactoseemia,   aglactosemia,   galactosemua,   galcatosemia,   galactosmeia,   gaalactosemia,   galactosemai,   galactosema,   galacttosemia,   galacrosemia,   galatcosemia,   galactossemia
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
Go to Page 1              Go to Page 2 »   
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z