DDrare: Database of Drug Development for Rare Diseases
", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage ... ", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome". 54. ... ", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1- ... ", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" ...
Hyperammonemia, Type Iii: Disease Bioinformatics: Novus Biologicals
Nevada Medical Home Portal - Isovaleric Acidemia
... metabolism of the branched chain amino acid leucine, results in the inability to break ... in the metabolism of the branched chain amino acid leucine, results in the inability to break down isovaleric acid and the ... Argininosuccinic Aciduria. * Beta-Ketothiolase Deficiency (BKD). * Biotinidase Deficiency. * CACT & CPT II Deficiencies ... Follow-up testing may include quantitative plasma acylcarnitine profile, urine organic acids, and urine acylglycine analysis. ...
Rhode Island Medical Home Portal - Guanidinoacetate Methyltransferase (GAMT) Deficiency
Homocystinuria - Paddle For Kids Corp
Hyperprolinemia - WikiProjectMed
Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... In particular, individuals with conditions that cause elevated levels of lactic acid in the blood, such as lactic acidemia, are ... Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in ...
Osteogenesis Imperfecta Type III Drug Targets by BDE-Bio
The drugs Zoledronic acid and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include ... Argininosuccinic Aciduria , Gallstones , Chronic Mucocutaneous Candidiasis , Vertebrobasilar Insufficiency , Syphilis , ... Lysosomal Acid Lipase Deficiency , Vitamin A Deficiency , COACH Syndrome , Spinal And Bulbar Muscular Atrophy , Malonyl-CoA ... Aromatic L-amino Acid Decarboxylase Deficiency , Pituitary Disorders , Smoldering Myeloma , Vaginitis , Stargardt Disease , ...
Succinic semialdehyde dehydrogenase deficiency - wikidoc
Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma- ... Taurine is a non-protein sulfur amino acid that is found in high concentrations in human milk. It has been shown to have ...
Medical Home Portal - Tyrosinemia Type 1
Quantitative plasma amino acid analysis, urine organic acid analysis. Quantitative succinyl acetone may be advised to ... Adrenoleukodystrophy (ALD) Argininemia Argininosuccinic Aciduria Beta-Ketothiolase Deficiency (BKD) Biotinidase Deficiency CACT ... Tyrosinemia type I is caused by a deficiency of fumarylacetoacetase (FAH), one of the last enzymes in aromatic amino acid ... Treatment consists of a diet low in the protein-derived amino acids tyrosine and phenylalanine, and nitisinone (NTBC), a ...
paddle-the-bay-logo - Paddle For Kids Corp
Alpha 1-antitrypsin deficiency: Emphysema due to [alpha]-antitrypsin deficiency : familial study of the YBarcelona variant -...
Acid maltase deficiency. Ackerman syndrome. Acne. Acne rosacea. Acoustic neuroma. Acquired ichthyosis. Acquired syphilis. ... Argininosuccinic aciduria. Argyria. Arnold-Chiari malformation. Arrhythmogenic right.... Arteriovenous malformation. Arteritis ... which resulted in a change from amino acid Asp256 to Val256, and a transversion from CCC to CAC in exon V of the codon for ... most of which are differentiated by a change in one polypeptide chain amino acid and denominated according to their mobility in ...
Arachnoiditis at The Medical Dictionary
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Sperm Donor Search - Meet Donor #10542 - Seattle Sperm Bank
Sperm Donor Search - Meet Donor #10460 - Seattle Sperm Bank
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Agenda - European Medicines Agency - Europa EU - P.PDFKUL.COM
5-chloro-1H-indole-2-butanoic acid, EMA/OD/072/15 3-pentylbenzeneacetic acid sodium salt, EMA/OD/046/16 3-[4-(1Himidazol-1- ... Treatment of argininosuccinic aciduria EMA/OD/004/10, EU/3/10/736 d) Treatment of hyperargininaemia EMA/OD/005/10, EU/3/10/737 ... EMA/OD/067/16 Zoledronic acid, EMA/OD/085/16 Temozolomide, EMA/OD/068/17 Picropodophyllin, EMA/OD/215/16 5-aminolevulinic acid ... Jul 16, 2018 - Cladribine, EMA/OD/087/17 Recombinant monoclonal antibody to sialic acid-binding Ig-like lectin 8. 2.2.6. - EMA/ ...
DeCS 2010 - New terms
Aspartic Acid Proteases. Ácido Aspártico Proteases. Proteasas de Ácido Aspártico. Axonemal Dyneins. Dineínas do Axonema. ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Cogan Syndrome. Síndrome de Cogan. Síndrome ... D12 - Amino Acids, Peptides, and Proteins. ARNTL Transcription Factors. Fatores de Transcrição ARNTL. Factores de Transcripción ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Barth Syndrome. Síndrome de Barth. Síndrome ...
DeCS 2010 - New terms
Aspartic Acid Proteases. Ácido Aspártico Proteases. Proteasas de Ácido Aspártico. Axonemal Dyneins. Dineínas do Axonema. ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Cogan Syndrome. Síndrome de Cogan. Síndrome ... D12 - Amino Acids, Peptides, and Proteins. ARNTL Transcription Factors. Fatores de Transcrição ARNTL. Factores de Transcripción ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Barth Syndrome. Síndrome de Barth. Síndrome ...
Idaho Medical Home Portal - Cornelia de Lange Syndrome Continuing Medical Education
DeCS 2010 - Novos termos
Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ... Aspartic Acid Proteases. Proteasas de Ácido Aspártico. D09 - Carboidratos. Prebióticos. Prebiotics. Prebióticos. ... Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ...
Diseases Browser
Urea Cycle Disorders Archives - Paddle For Kids Corp
An inherited disorder that causes the amino acid arginine and ammonia to accumulate gradually in the blood. Ammonia, which is ...
Phenylketonuria - WikiProjectMed
"Dietary Reference Intakes for Energy, Carbohydrates, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids. Washington ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... The fact that CGMP is a peptide ensures that the absorption rate of its amino acids is prolonged compared to free amino acids ... The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this ...
New Mexico Medical Home Portal - Adrenoleukodystrophy (ALD)
Sialidosis Type I Drug Targets by BDE-Bio
EurekaMag PDF full texts Chapter 6207
Prostacyclin evidence that intramolecular general acid catalysis by its carboxylic acid group is responsible for the extra ... Donn, S.M.; Thoene, J.G. 1985: Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine ... Detitta, G.T.; Langs, D.A.; Edmonds, J.W.; Duax, W.L. 1980: Prostadienoic acids prostaglandin e 2 and prostaglandin f 2 beta ... Khan, O.; Hensby, C.N.; Williams, G. 1982: Prostacyclin in prostatic cancer: a better marker than bone scan or serum acid ...
Anosmia at The Medical Dictionary
Sperm Donor Search - Meet Donor #12963 - Seattle Sperm Bank
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Morton (10480) Open ID Donor - Sussex Sperm Bank
Gendoo
DeCS 2010 - Novos termos
Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ... Aspartic Acid Proteases. Proteasas de Ácido Aspártico. D09 - Carboidratos. Prebióticos. Prebiotics. Prebióticos. ... Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ...