GeneralConnection.com ➔ Dictionary
Dictionary Search

galactosemia

Synonyms

Noun

1. inborn error of metabolism

Usage
Galactose mutarotase deficiency as the galactosemia type IV - Journal of Human Genetics - Nature
Contraindications to Breastfeeding - Centers for Disease Control and Prevention | CDC (.gov)
Mother channels fear into advocacy after son’s rare disease diagnosis - WSOC TV
Jared Druss - Emory School of Medicine
'Control Lab' gets their reps in to support Children's Hospital of Philadelphia - 6abc Philadelphia
Cycle buying Applied Therapeutics to develop CNS drugs - BioWorld News
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience - Wiley Online Library
An Unusual Case of Untreated Galactosemia in an Adult Woman (1562) - Neurology® Journals
Why pharma is still far from a treatment for galactosemia - Clinical Trials Arena
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails - Children's National Hospital
Longitudinal assessment of intellectual achievement in patients with classical galactosemia - National Institutes of Health (.gov)
FDA Issues CRL for Govorestat Application As Treatment for Classic Galactosemia - NeurologyLive
Wait for galactosemia therapy goes on after FDA shuns Applied Therapeutics’ govorestat - Pharmaceutical Technology
Transient Cytopenias as a Rare Presentation of Classic Galactosemia - Cureus
Applied’s rare disease drug rejected by FDA - BioPharma Dive
Study brings clarity about milk intake for children with Duarte galactosemia - News-Medical
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) - Nature
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia - Neurology® Journals
Galactosemia, a Single Gene Disorder With Epigenetic Consequences - 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
Low prevalence of classical galactosemia in Korean population | Journal of Human Genetics - Nature
Applied Therapeutics Crashes After FDA Rejection of Rare Disease Drug - BioSpace
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia - Nature
Applied's rare disease drug suffers another phase 3 failure months after FDA rejection - Fierce Biotech
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model - Nature
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability - Cambridge University Press & Assessment
Applied Therapeutics Receives Complete Response Letter from FDA for Govorestat New Drug Application for Classic Galactosemia - Quiver Quantitative
StockWatch: FDA Surprise Lifts Expectations for Applied’s Govorestat - Genetic Engineering and Biotechnology News
FDA Warns Applied Therapeutics of ‘Objectionable Conditions’ in Govorestat Study - BioSpace
Congenital Cataracts - Consultant360
APLT Stock Plunges 77% After FDA Issues CRL for Galactosemia Drug NDA - Yahoo Finance
Functional correction by antisense therapy of a splicing mutation in the GALT gene - Nature
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study - Nature
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
Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia - Nature
Rare Disease Day: Three children's struggles shed light on rare genetic disorders - CBS News
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations - Nature
Galactosemia Treatment Market Expected to Double by 2032, Projected Growth at 6.8% CAGR | Marketrese - PharmiWeb.com
Deadly Delays: Aiden Cooper's story - Milwaukee Journal Sentinel
Deadly Delays: Garrett Saine's story - Milwaukee Journal Sentinel
Applied Therapeutics' trial conduct scrutinized in FDA warning letter - Fierce Biotech
Complete Response Letter, Warning Letter and Shareholder Lawsuit Follow FDA Data Integrity Findings - JD Supra
Louis J. “Skip” Elsas II, MD, FACMG - Nature
Galactokinase deficiency: lessons from the GalNet registry - Nature
Applied Therapeutics, Inc. SEC 10-Q Report - TradingView
Galactose and its Metabolites Deteriorate Metaphase II Mouse Oocyte Quality and Subsequent Embryo Development by Disrupting the Spindle Structure - Nature
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase ( GALT ) gene - Nature
Yeast study offers new insights into a devastating metabolic disorder - UCLA Health
Sepsis Due to Escherichia coli in Neonates with Galactosemia - NEJM
Unconjugated Hyperbilirubinemia in Galactosemia - NEJM
3 tips to dealing with a rare disease diagnosis - Asbury Park Press
Hypergonadotropic Hypogonadism in Female Patients with Galactosemia - NEJM
Blizzard can’t stop New England Newborn Screening Program - UMass Chan Medical School
Newborn screening undermined by hospital delays; babies put at risk - Milwaukee Journal Sentinel
AKUH introduces new test for newborns - The Aga Khan University
An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed by Newborn Screening - Nature
Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency - Nature
Galactosemia screening kit indigenized - IRNA English
Healthy, happy 1-year-old Juliana Salvi of Mansfield owes her life to newborn screening and dedicated medical staff - The Sun Chronicle
Infant undergoes liver transplant at Yashoda Hospitals - Healthcare Radius
Liver Transplant Successfully Conducted On 23-Day-Old Baby Diagnosed With Galactosemia - TheHealthSite
Soy-based formula may cause changes in girls’ reproductive system - The Indian Express
My Curious Case: GALT in an infant - The Indian Express
Niloufer Hospital in Hyderabad launches newborn screening programme to detect rare genetic conditions - The Hindu
When Adriana saw this photo she knew something was not right - Nine.com.au
Rare Disease Day 2024: Cystic Fibrosis to Galactosemia, know ways to manage rare diseases in newborns - India TV News
Foreign Language Equivalents
Foreign Language Equivalents of 'galactosemia'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
galactoswmia,   galactosema,   galacttosemia,   galactossemia,   galsctosemia,   glaactosemia,   galacosemia,   gakactosemia,   galactisemia,   galactose,ia,   galactosemoa,   gaactosemia,   gaalctosemia,   gslactosemia,   galacotsemia,   galctosemia,   galacyosemia,   galactoaemia,   galactosemmia,   galactsemia,   aglactosemia,   halactosemia,   galacrosemia,   galactoosemia,   galactosenia,   galatosemia,   galactosemua,   galactpsemia,   galactsoemia,   gallactosemia,   galactodemia,   galactoesmia,   galactosemi,   galactosemiaa,   galactosrmia,   galactoseima,   falactosemia,   galacctosemia,   galaactosemia,   galactosemis,   ga;actosemia,   gaalactosemia,   galactosmia,   galatcosemia,   galaxtosemia,   galactoseia,   ggalactosemia,   galavtosemia,   galactosmeia,   galcatosemia,   galactosemai,   galactoseemia,   alactosemia,   galactoemia,   glactosemia,   galactosemiia
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