PT2926139T - Método de diagnóstico da galactosémia num rastreio neonatal - Google Patents

Método de diagnóstico da galactosémia num rastreio neonatal

Info

Publication number
PT2926139T
PT2926139T PT13817874T PT13817874T PT2926139T PT 2926139 T PT2926139 T PT 2926139T PT 13817874 T PT13817874 T PT 13817874T PT 13817874 T PT13817874 T PT 13817874T PT 2926139 T PT2926139 T PT 2926139T
Authority
PT
Portugal
Prior art keywords
neonatal screening
galactosemia
diagnosing
diagnosing galactosemia
neonatal
Prior art date
Application number
PT13817874T
Other languages
English (en)
Inventor
Sierra Cohen Arieh
Original Assignee
Statens Seruminstitut
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Statens Seruminstitut filed Critical Statens Seruminstitut
Publication of PT2926139T publication Critical patent/PT2926139T/pt

Links

Classifications

    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/66Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood sugars, e.g. galactose
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/54Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving glucose or galactose
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2400/00Assays, e.g. immunoassays or enzyme assays, involving carbohydrates
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/04Endocrine or metabolic disorders
    • G01N2800/042Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/38Pediatrics
    • G01N2800/385Congenital anomalies
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/50Determining the risk of developing a disease

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Hematology (AREA)
  • Molecular Biology (AREA)
  • Urology & Nephrology (AREA)
  • Biomedical Technology (AREA)
  • Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Food Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • Cell Biology (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Diabetes (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
PT13817874T 2012-12-03 2013-11-28 Método de diagnóstico da galactosémia num rastreio neonatal PT2926139T (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
DKPA201200767 2012-12-03

Publications (1)

Publication Number Publication Date
PT2926139T true PT2926139T (pt) 2018-11-05

Family

ID=49918358

Family Applications (1)

Application Number Title Priority Date Filing Date
PT13817874T PT2926139T (pt) 2012-12-03 2013-11-28 Método de diagnóstico da galactosémia num rastreio neonatal

Country Status (12)

Country Link
US (1) US9410960B2 (pt)
EP (1) EP2926139B1 (pt)
JP (1) JP6491103B2 (pt)
CN (1) CN104797938B (pt)
BR (1) BR112015012773A2 (pt)
CA (1) CA2892926C (pt)
DK (1) DK2926139T3 (pt)
ES (1) ES2689084T3 (pt)
HU (1) HUE039597T2 (pt)
PL (1) PL2926139T3 (pt)
PT (1) PT2926139T (pt)
WO (1) WO2014086361A1 (pt)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN108226323A (zh) * 2017-12-13 2018-06-29 重庆华邦胜凯制药有限公司 一种测定异烟肼起始原料4-氰基吡啶及其杂质含量的方法
RU2694839C1 (ru) * 2018-08-16 2019-07-17 Федеральное государственное автономное учреждение "Национальный медицинский исследовательский центр здоровья детей" Министерства здравоохранения Российской Федерации (ФГАУ "НМИЦ здоровья детей" Минздрава России) Способ профилактики нутритивной недостаточности у детей с болезнью Гиршпрунга
EP3870964A4 (en) * 2018-10-19 2022-10-26 Avalon Hepapoc Limited SYSTEM FOR RAPID QUANTITATIVE DETERMINATION OF GALACTOSE AND ITS USE

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5585473A (en) * 1994-12-09 1996-12-17 The Biomembrane Institute Compounds and methods for monosaccharide analysis
US6913879B1 (en) * 2000-07-10 2005-07-05 Telechem International Inc. Microarray method of genotyping multiple samples at multiple LOCI
US6451611B1 (en) * 2000-07-28 2002-09-17 Statens Serum Institute Quantitative analysis of hexose-monophosphates from biological samples
US6800489B2 (en) * 2002-06-05 2004-10-05 Izaak Walton Killam Health Center Electrospray tandem mass spectrometry of transition metal diimine complexes of amino acids, α-hydroxyketones and hexose phosphates for newborn screening
US7951608B2 (en) * 2007-05-04 2011-05-31 Perkinelmer Health Sciences, Inc. Detecting succinylacetone
JP5092112B2 (ja) * 2007-12-13 2012-12-05 財団法人ヒューマンサイエンス振興財団 糖類及び糖鎖のフェニルヒドラゾン化方法、該方法によりフェニルヒドラゾン化した糖類及び糖鎖の分析方法、並びに、前記方法を利用した糖類及び糖鎖の比較定量方法

Also Published As

Publication number Publication date
HUE039597T2 (hu) 2019-01-28
ES2689084T3 (es) 2018-11-08
CA2892926A1 (en) 2014-06-12
US20150293111A1 (en) 2015-10-15
CA2892926C (en) 2023-02-21
JP6491103B2 (ja) 2019-03-27
PL2926139T3 (pl) 2018-12-31
EP2926139B1 (en) 2018-07-11
BR112015012773A2 (pt) 2017-07-11
DK2926139T3 (en) 2018-10-22
JP2016509197A (ja) 2016-03-24
CN104797938B (zh) 2017-12-26
EP2926139A1 (en) 2015-10-07
CN104797938A (zh) 2015-07-22
US9410960B2 (en) 2016-08-09
WO2014086361A1 (en) 2014-06-12

Similar Documents

Publication Publication Date Title
EP2939022A4 (en) BIOMARKERS OF PREMATURE BIRTH
IL239262A0 (en) Scanning methods
HK1201452A1 (en) Methods of reducing risk of cardiovascular disease
EP2935628A4 (en) COMPOSITIONS AND METHODS FOR APTAMER SCREENING
EP2922861A4 (en) BIOMARKER COMPOSITIONS AND METHODS
EP2814984A4 (en) MIRNA ANALYSIS PROCEDURE
EP2823306A4 (en) BIOMARKER COMPOSITIONS AND METHODS
HUE037048T2 (hu) Eljárások 4-cikloalkiloxibenzolszulfonamidok elõállítására
IL237668A0 (en) Polymorphic forms of enzalutamide and methods for their preparation
EP2685807A4 (en) SCREENING METHODS
SG10201600869SA (en) Well testing and production apparatus and method
EP2861655A4 (en) METHODS OF DEOLVANTIZATION OF BAGASSE
HUP1200607A2 (en) Diagnostic method
EP2832768A4 (en) PROCESS FOR THE PREPARATION OF POLYIMIDE
ZA201409061B (en) Floating structure and method for obtaining same
EP2821433A4 (en) RUBBER COMPOSITION AND PROCESS FOR PRODUCING RUBBER COMPOSITION
EP2856159A4 (en) METHODS RELATING TO DENOSUMAB
PL2931937T3 (pl) Sposób wytwarzania układów nanocząstek metali
EP2841942A4 (en) Preeclampsia SCREENING PROCESS
EP2699699A4 (en) METHOD FOR THE DIAGNOSIS OF CANCER
EP2871226A4 (en) COKE AND METHOD FOR THE PRODUCTION THEREOF
EP2847339A4 (en) MEANS AND METHOD FOR PRODUCING METHANE
GB201218341D0 (en) Diagnostic method
HUE039597T2 (hu) Eljárás galaktozémia kimutatására újszülöttek szûrésekor
HK1208553A1 (en) Certification of origin