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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
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 still pursuing govorestat approval for CMT-SORD, despite late-stage miss - 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 plummets after FDA rejects govorestat - FirstWord Pharma
Applied Therapeutics Reports Third Quarter 2024 Financial Results - GlobeNewswire
Applied's rare disease drug suffers another phase 3 failure months after FDA rejection - Fierce Biotech
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
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
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
Applied Thera tanks, as FDA slaps CRL on govorestat NDA - The Pharma Letter
Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report - BMC Infectious Diseases
Mumbai News: 4-Day-Old Infant Recovers From Rare Genetic Disorder Galactosemia At Mira Road Hospital - Free Press Journal
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
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
Biallelic GALM pathogenic variants cause a novel type of galactosemia - Nature
FDA Requests Clinical Outcomes Data for Galactosemia Treatment - Medical Professionals Reference
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
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study - Nature
Low prevalence of classical galactosemia in Korean population - Nature
World map of countries screening for galactosemia in neonates.⁹¹ - researchgate.net
Table 5 : Strategies for monitoring patients with classic galactosemia... - researchgate.net
Table 1 Clinical summary of patients with galactosemia and results of... - researchgate.net
FDA Extends Review Period for Applied Therapeutics’ Govorestat by Three Months - BioSpace
Molecular characterization of novel and rare DNA variants in patients with galactosemia - Frontiers
Verbal Dyspraxia and Galactosemia - Nature
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
Galactokinase deficiency: lessons from the GalNet registry - Nature
Positive galactosemia newborn screening and following diagnostic... - researchgate.net
The Leloir pathway of galactose metabolism. ADP, adenosine diphosphate;... - researchgate.net
FDA pumps brakes on Applied's govorestat, seeks more time for review - FirstWord Pharma
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia - Nature
Classical galactosaemia: novel insights in IgG N -glycosylation and N -glycan biosynthesis - Nature
Editorial: Inborn errors of carbohydrate metabolism - Frontiers
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
FDA decision delay for Applied Tx rare disease drug sends biotech's stock tumbling after hours - Fierce Biotech
Fig. 1 The pedigree of the patient - researchgate.net
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
Summary of reported galactose in various foods and ingredients. - researchgate.net
Fig. 1. Diagnostic Flowchart for Galactosemia Screening and Management.... - researchgate.net
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
Rare Disease Day 2024: Cystic Fibrosis to Galactosemia, know ways to manage rare diseases in newborns - India TV News
Represents the standard Leloir pathway - researchgate.net
Fig. 2 Electropherograms of the GALK1 mutations identified in the... - 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
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
Rare Disease Day: Three children's struggles shed light on rare genetic disorders - CBS News
FDA extends review period for Applied Therapeutics’ govorestat NDA - Pharmaceutical Technology
Liver Transplant Successfully Conducted On 23-Day-Old Baby Diagnosed With Galactosemia - TheHealthSite
Leloir pathway of galactose metabolism. GALT deficiency leads to... - researchgate.net
SCID Testing to Begin in Arizona? Maybe. - AZ Public Health Association
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase ( GALT ) gene - Nature
Applied Therapeutics receives EMA orphan designation for AT-007 - Pharmaceutical Technology
Foreign Language Equivalents
Foreign Language Equivalents of 'galactosemia'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
galacosemia,   gslactosemia,   gakactosemia,   galacyosemia,   galactoswmia,   galactose,ia,   galactosema,   halactosemia,   galactoemia,   galactoesmia,   galactosemiaa,   galactsemia,   galactosemoa,   galactpsemia,   galaxtosemia,   galactosrmia,   galactoaemia,   gaalactosemia,   galatosemia,   galactosemmia,   galactosmia,   galatcosemia,   galactsoemia,   galactodemia,   galactosmeia,   galactosemi,   galactosenia,   alactosemia,   galactoseia,   glaactosemia,   galactoosemia,   ggalactosemia,   ga;actosemia,   galactosemai,   galactossemia,   glactosemia,   galacrosemia,   gaalctosemia,   galacotsemia,   gaactosemia,   galaactosemia,   galacctosemia,   galcatosemia,   galactosemis,   galacttosemia,   aglactosemia,   galctosemia,   galactisemia,   galactosemua,   galactoseemia,   galactosemiia,   galavtosemia,   gallactosemia,   galsctosemia,   galactoseima,   falactosemia
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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