Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Abstract Text:

Marcel R ,Johannes Zschocke,Martin Lindner, Feillet, Chery,Alberto Burlina,Raymond C Stevens,Beat ,Nenad Blau,Marcel R ,Johannes Zschocke,Martin Lindner, Feillet, Chery,Alberto Burlina,Raymond C Stevens,Beat ,Nenad Blau,Marcel R Zurflüh,Johannes Zschocke,Martin Lindner,François Feillet,Céline Chery,Alberto Burlina,Raymond C Stevens,Beat Thöny,Nenad Blau,

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Publishing Authors By Initials

MR ,J Zschocke,M Lindner,F Feillet,C Chery,A Burlina,RC Stevens,B ,N Blau,MR ,J Zschocke,M Lindner,F Feillet,C Chery,A Burlina,RC Stevens,B ,N Blau,MR Zurflüh,J Zschocke,M Lindner,F Feillet,C Chery,A Burlina,RC Stevens,B Thöny,N Blau,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Human mutation

VOLUME: 29

Page Numbers: 167-75

Journal Abbreviation:

ISSN: 1098-1004

DAY: 27

MONTH: Jan

YEAR: 2008

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9215429

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

AFFILIATION:

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Hum Mutat

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency Related Publications

• A comparison of NIH-approved human ESC lines.
• A generic organometallic approach toward ultra-strong carbon nanotube polymer composites.
• A novel enzyme complementation-based assay for monitoring G-protein-coupled receptor internalization.
• A system for quantifying dynamic protein interactions defines a role for Herceptin in modulating ErbB2 interactions.
• A universal technology for monitoring G-protein-coupled receptor activation in vitro and noninvasively in live animals.
• Active tissue-specific DNA demethylation conferred by somatic cell nuclei in stable heterokaryons.
• Anne McLaren (1927-2007).
• Bloodstream infections in neutropenic patients: early detection of pathogens and directed antimicrobial therapy due to surveillance blood cultures.
• Chromosomal aberrations in bone marrow mesenchymal stroma cells from patients with myelodysplastic syndrome and acute myeloblastic leukemia.
• Cost-benefit assessment of antifungal prophylaxis with liposomal amphotericin B in neutropenic patients.
• Emergency treatment of chest wounds.
• Engraftment kinetics and hematopoietic chimerism after reduced-intensity conditioning with fludarabine and treosulfan before allogeneic stem cell transplantation.
• False-positive Aspergillus antigen testing due to application of piperacillin/tazobactam-is it still an issue?
• Feeling and seeing headaches.
• Growth factor receptors as regulators of hematopoiesis.
• Increased host neuronal survival and motor function in BMT Parkinsonian mice: involvement of immunosuppression.
• Joint hypermobility and headache.
• Localization of vascular response to VEGF is not dependent on heparin binding.
• Membranes, ions, and clocks: testing the njus-sulzman-hastings model of the circadian oscillator.
• Microenvironmental VEGF distribution is critical for stable and functional vessel growth in ischemia.
• Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
• Multiarm high-throughput integration site detection: limitations of LAM-PCR technology and optimization for clonal analysis.
• Passive water-lipid Peptide translocators with conformational switches: from single-molecule probe to cellular assay.
• Penetration of colloidal carbon through post-capillary venules in lymph nodes and Peyer's patches of the guinea-pig: a potential immunogeneic route.
• Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution.
• Sleep deprivation headache.
• The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the Basal Ganglia and cerebellum.
• [Estrogen and progesterone receptors in mesenchymal structures of the female urogenital tract]
• [Partial denervation of the bladder--last resort in the treatment of motor urge incontinence]
• [The use of a double balloon catheter in the topical extra-amniotic administration of prostaglandin F2alpha gel in indicated labor induction and cervix incompetence]