Dictionary

allow_url_fopen is ENABLED Dictionary Search

galactosemia

Synonyms

Noun

1. inborn error of metabolism

Usage
Galactose mutarotase deficiency as the galactosemia type IV - Journal of Human Genetics - Nature
Jared Druss - Emory School of Medicine
Cycle buying Applied Therapeutics to develop CNS drugs - BioWorld MedTech
Applied Therapeutics, Inc. SEC 10-Q Report - TradingView
Applied's rare disease drug suffers another phase 3 failure months after FDA rejection - Fierce Biotech
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience - Wiley Online Library
Why pharma is still far from a treatment for galactosemia - Clinical Trials Arena
Cycle Pharmaceuticals to Acquire Applied Therapeutics - citybiz
Applied still pursuing govorestat approval for CMT-SORD, despite late-stage miss - FirstWord Pharma
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails - Children's National Hospital
FDA Issues CRL for Govorestat Application As Treatment for Classic Galactosemia - Neurology Live
Transient Cytopenias as a Rare Presentation of Classic Galactosemia - Cureus
Wait for galactosemia therapy goes on after FDA shuns Applied Therapeutics’ govorestat - Pharmaceutical Technology
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia - Neurology® Journals
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 Crashes After FDA Rejection of Rare Disease Drug - BioSpace
Galactosemia, a Single Gene Disorder With Epigenetic Consequences - Nature
Sweet and sour: an update on classic galactosemia - Coelho - 2017 - Journal of Inherited Metabolic Disease - Wiley Online Library
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) - Nature
Low prevalence of classical galactosemia in Korean population - Nature
Milk or no milk? Study fills long‑time knowledge gap on babies with genetic disorder - WSU Insider
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia - Nature
Long-term speech and language developmental issues among children with Duarte galactosemia - Nature
FDA extends review period for govorestat to treat classic galactosemia - Contemporary Pediatrics
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia - Frontiers
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability - Cambridge University Press & Assessment
FDA Action Alert: Applied Therapeutics Awaits Verdict on Rare Disease Therapy - BioSpace
Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia - Nature
Verbal Dyspraxia and Galactosemia - Nature
Applied Therapeutics Seeks NDA for Rare Pediatric Disease Drug Despite Phase III Failure - BioSpace
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model - Nature
APLT Stock Plunges 77% After FDA Issues CRL for Galactosemia Drug NDA - Yahoo Finance
Applied Therapeutics Receives Complete Response Letter from - GlobeNewswire
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study - Nature
Galactokinase deficiency: lessons from the GalNet registry - Nature
StockWatch: FDA Surprise Lifts Expectations for Applied’s Govorestat - GEN - Genetic Engineering and Biotechnology News
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia - Nature
Congenital Cataracts - Consultant360
Classical galactosaemia: novel insights in IgG N -glycosylation and N -glycan biosynthesis - Nature
Cycle seizes struggling Applied Tx, picking up rare disease biotech for pennies per share - Fierce Biotech
Mutations at the Galactose-1-P-Uridyltransferase Gene in Infants with a Positive Galactosemia Newborn Screening Test - Nature
Poland Expands Newborn Screening Program to Include Rare Genetic Disorders - NAVLIN DAILY
Applied Therapeutics' trial conduct scrutinized in FDA warning letter - Fierce Biotech
Functional correction by antisense therapy of a splicing mutation in the GALT gene - Nature
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations - Nature
US FDA declines to approve Applied Therapeutics' genetic disease drug - Reuters
30M Americans have a rare disease - WCAX
Applied Therapeutics Drug Is Denied FDA Approval in Rare Inherited Metabolic Disease - MedCity News
Crohn Disease in an Adolescent With Galactosemia - Marx - 2002 - Journal of Pediatric Gastroenterology and Nutrition - Wiley Online Library
US FDA extends review of Applied Therapeutics' genetic disease drug - Reuters
Galactosemia: The good, the bad, and the unknown - Wiley Online Library
Sepsis Due to Escherichia coli in Neonates with Galactosemia | New England Journal of Medicine - The New England Journal of Medicine
Bad to worse for Applied Therapeutics as FDA slaps partial clinical hold on rare drug - Fierce Biotech
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase ( GALT ) gene - Nature
3 tips to dealing with a rare disease diagnosis - Asbury Park Press
Milk / No milk : researchers finally clarity to parents of children with Duarte galactosemia - https://debuglies.com
Rare Disease Day 2024: Cystic Fibrosis to Galactosemia, know ways to manage rare diseases in newborns - India TV News
Applied Therapeutics Stock Soars As FDA Scraps Panel Meeting For Its Inherited Metabolic Disorder Drug - Yahoo Finance
East York family raising money for galactosemia research - Toronto.com
Hypergonadotropic Hypogonadism in Female Patients with Galactosemia - The New England Journal of Medicine
Newborn screening undermined by hospital delays; babies put at risk - Milwaukee Journal Sentinel
Rare Disease-Focused Applied Therapeutics' Lead Candidate Govorestat Has Blockbuster Potential, Analyst Sees 140% Stock Upside - Yahoo Finance
Galactosemia screening kit indigenized - IRNA
Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency - Nature
Applied Therapeutics Announces Partnership with Advanz - GlobeNewswire
Liver Transplant Successfully Conducted On 23-Day-Old Baby Diagnosed With Galactosemia - TheHealthSite
Applied Therapeutics says it received FDA's warning letter for genetic disease drug study - ET Pharma
Infant undergoes liver transplant at Yashoda Hospitals - Healthcare Radius
Niloufer Hospital in Hyderabad launches newborn screening programme to detect rare genetic conditions - The Hindu
Now, genetic disorder tests at Child PGI - The Times of India
Foreign Language Equivalents
Foreign Language Equivalents of 'galactosemia'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
aglactosemia,   glaactosemia,   galactosenia,   galactoseima,   galactoseemia,   galctosemia,   galcatosemia,   galactosemiaa,   galactosmeia,   galacyosemia,   galactoswmia,   galaactosemia,   galactosemis,   gaalactosemia,   galactosemmia,   galacctosemia,   galactossemia,   galactoesmia,   galatosemia,   gslactosemia,   galactoseia,   gakactosemia,   galaxtosemia,   galactsoemia,   halactosemia,   galactosemua,   galactpsemia,   alactosemia,   galactoaemia,   galactoosemia,   galactoemia,   galactosemoa,   galsctosemia,   galactosemi,   galatcosemia,   galacosemia,   galacotsemia,   galactosemiia,   galactosmia,   galactosrmia,   glactosemia,   ggalactosemia,   galavtosemia,   falactosemia,   galactose,ia,   ga;actosemia,   gallactosemia,   gaalctosemia,   galactisemia,   gaactosemia,   galactosemai,   galactodemia,   galacttosemia,   galactosema,   galactsemia,   galacrosemia
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