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Homocystinuria: more detail

Homocystinuria: Webster's Timeline History, 1966 - 2007 by Icon Group International, 2009-02-20
Homocystinuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Renee, MS Laux, 2005
Homocystinuria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
Homocystinuria: A Risk Factor of Premature Vascular Disease by G.H.J. Boers, 1986-12
Homocystinuria: Clinical, biochemical and genetic aspects of cystathionine s-synthase and its deficiency in man (Acta paediatrica Scandinavica) by Flemming Skovby, 1985
Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976
Homocysteine: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Tish, A.M. Davidson, 2006

lists with details

Healthwise
Topic homocystinuria, Back to previous page. Synonyms Disorder Subdivisions General Discussion Resources National Organization for Rare Disorders.
http://www.stlukes-sf.org/health/healthinfo/index.cfm?section=healthinfo&page=ar
LookSmart - Article Search For " Homocystinuria"
Results for +homocystinuria from FindArticles (showing 1 10 of 32), About. Join the Zeal community and help build the +homocystinuria Directory Topic.
http://www.findarticles.com/cf_dls/PI/search.jhtml?isp=FA&cat=ref&cat=health&key
Eastern Mediterranean Health Journal, Vol. 5 No. 6, Classic Homocystinuria: Clin
Classic homocystinuria clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients. Volume
http://www.emro.who.int/Publications/EMHJ/0506/17.htm

Extractions: Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients Volume 5, Issue 6, 1999, Page 1196-1203 M.A. Al-Essa, M.S. Rashed and P.T. Ozand SUMMARY We considered the clinical, biochemical and radiological findings, and response to pyridoxine (vitamin B ) of 24 classic homocystinuric patients (15 females, 9 males) diagnosed at King Faisal Specialist Hospital and Research Centre. Common clinical findings included ectopia lentis (20 patients), skeletal system involvement (18 patients), vascular system involvement (9 patients) and mental retardation (all patients to varying degrees). A number of unusual findings were reported. The parents of 21 patients were first-degree relatives and 19 patients had at least one other family member affected by the same disease. Only 4 patients responded to pyridoxine; their methionine level decreased to almost normal range. Introduction Classic homocystinuria is the most common inborn error of methionine metabolism due to cystathionine b-synthase deficiency (CBS) [ ]. It leads to significant hypermethionaemia and increased plasma total homocystine (free, disulfide and protein-bound forms). There is also increased excretion of methionine and disulfides, homocystine and cysteine-homocysteine. Infants with this disorder have non-specific complaints. After the age of 3 years, sublaxation of the ocular lenses are is [
Arquivos De Neuro-Psiquiatria -
Translate this page Cerebral venous thrombosis and homocystinuria case report. ABSTRACT - homocystinuria presenting as cerebral venous thrombosis is not usual.
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000500032&l
HealthCentral - Pediatrics Encyclopedia - Homocystinuria
Pediatric Health Encyclopedia, homocystinuria. Causes, incidence, and risk factors homocystinuria is inherited as an autosomal recessive trait.
http://www.healthcentral.com/peds/top/001199.cfm

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British National Formulary: Homocystinuria
homocystinuria. Analog XMet; MethionineFree Amino Acid Mix; Vitaflo Flavour Pac, HCU gel; XMet Maxamaid; XMet Maxamum, and see also
http://www.bnf.org/bnf/bnf/current/doc/28792.htm

Extractions: Home ... Foods which may be prescribed on FP10, GP10 (Scotland), or when available WP10 (Wales) Analog XMet; Methionine-Free Amino Acid Mix; Vitaflo Flavour Pac, HCU gel; XMet Maxamaid; XMet Maxamum, and see also low-protein products; synthetic diets. Top Next: Hyperlipoproteinaemia type 1Â» Use a no-framed version BNF Â© British Medical Association and Royal Pharmaceutical Society of Great Britain ... Accessibility
CBS
CM990327, 49, CCGCTG, Pro-Leu, homocystinuria, 1. CM990328, 58, cCGG-TGG, Arg-Trp, homocystinuria, 1. CM012339, 65, CAT-CGT, His-Arg, homocystinuria, 2.
http://archive.uwcm.ac.uk/uwcm/mg/ns/1/119754.html

Extractions: Number Codon Nucleotide Amino acid Phenotype Reference CCG-CTG Pro-Leu Homocystinuria cCGG-TGG Arg-Trp Homocystinuria CAT-CGT His-Arg Homocystinuria CCA-CGA Pro-Arg Homocystinuria cGGG-AGG Gly-Arg Homocystinuria cCCT-TCT Pro-Ser Homocystinuria CTG-CCG Leu-Pro Homocystinuria AAGt-AAC Lys-Asn Homocystinuria gAAG-CAG Lys-Gln Homocystinuria gTGT-CGT Cys-Arg Homocystinuria GCG-GTG Ala-Val Homocystinuria cGGG-AGG Gly-Arg Homocystinuria cCGC-TGC Arg-Cys Homocystinuria CGC-CAC Arg-His Homocystinuria CGC-CTC Arg-Leu Homocystinuria CGG-CAG Arg-Gln Homocystinuria CGG-CCG Arg-Pro Homocystinuria gCGG-TGG Arg-Trp Homocystinuria gATG-GTG Met-Val Homocystinuria GAGg-GAC Glu-Asp Homocystinuria GAGc-GAC Glu-Asp Homocystinuria cGGG-AGG Gly-Arg Homocystinuria cGAG-AAG Glu-Lys Homocystinuria CCG-CTG Pro-Leu Homocystinuria cGGG-AGG Gly-Arg Homocystinuria cGGG-AGG Gly-Arg Homocystinuria ATCg-ATG Ile-Met Homocystinuria gGCC-ACC Ala-Thr Homocystinuria TGC-TAC Cys-Tyr Homocystinuria cGTG-ATG Val-Met Homocystinuria cGAG-AAG Glu-Lys Homocystinuria GTG-GCG Val-Ala Homocystinuria ACG-ATG Thr-Met Homocystinuria GAC-GTC Asp-Val Homocystinuria CGC-CAC Arg-His Homocystinuria AACc-AAG Asn-Lys Homocystinuria AACc-AAA Asn-Lys Homocystinuria cGAC-AAC Asp-Asn Homocystinuria tGAG-AAG Glu-Lys Homocystinuria ACG-ATG Thr-Met Homocystinuria ACG-AGG Thr-Arg Homocystinuria ACG-ATG Thr-Met Homocystinuria cAGG-GGG Arg-Gly Homocystinuria AGG-AAG Arg-Lys Homocystinuria ATT-ACT
Health Library -
homocystinuria. homocystinuria. Infants born with homocystinuria may fail to grow and gain weight (failure to thrive) and may experience developmental delays.
http://myhealth.barnesjewish.org/library/healthguide/en-us/support/topic.asp?hwi
PharmGKB: Homocystinuria
homocystinuria. Alternate Names Cystathionine beta Synthase Deficiency Disease; Cystathionine betaSynthase Deficiency Disease; Deficiency
http://www.pharmgkb.org/do/serve?objId=PA444487&objCls=Disease
UMB 1356
CASE IDENTIFICATION CODE. UMB 1356. DISORDER homocystinuria AGE 38 year(s) 227 day(s) SEX Male RACE Caucasian POST MORTEM INTERVAL 58 hour(s) CAUSE OF DEATH
http://medschool.umaryland.edu/BTBank/UMB_1356.htm

Extractions: AVAILABLE TISSUE ....FIXED.... BRAIN (Protocol Method 2) CEREBRUM- Hemi Coronal Section(2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22, 24, 26, 28, 30), MID BRAIN/PONS- Section(2, 4, 6, 8), CEREBELLUM- Section (2, 4, 6, 8) OTHER ORGAN SYSTEMS (not available) ....FROZEN.... BRAIN (Protocol Method 2) CEREBRUM- Hemi Coronal Section(1, 3, 5, 7, 9, 11, 13, 15, 17, 19, 21, 23, 25, 27, 29, 31), MID BRAIN/PONS- Section(1, 3, 5, 7, 9), CEREBELLUM- Section(1, 3, 5, 7, 9) OTHER ORGAN SYSTEMS (not available)
Electron Transfer Factors In Psychosis And Dyskinesia
parksonsonism, Yes (71), autoxidizes. homocystinuria (73), homocysteine thiolactone, 0.07, yes (11), yes (73,74, ?, see comment e, hypo ? (73), autoxidizes.
http://www.drproctor.com/rev/72rev.htm

Extractions: Dr P sez: See Harman for an important antecedent. In addition to hinting that the action of radicals is messenger-mediated ( later dubbed "redox-signaling" ), arguably, the most important suggestions here are that homocysteine pathogenesis involves electron-transfer processes ( including oxidative stress ) and that polyacetylenes such as melanin can be "doped" by charge-transfer agents. For a later version of this review, go here . For more on homocysteine and redox signaling, go here. For more on homocysteine and altzheimers dementia go here here and here For more on doped polyacetylenes go here. ELECTRON-TRANSFER FACTORS IN PSYCHOSIS AND DYSKINESIA PETER PROCTOR Department of Physics, The University of Texas at Houston, M. D. Anderson Hospital and Tumor Institute, The University of Texas at Houston Graduate School of Biomedical Sciences, Houston Texas (Received May 17,1972) SUMMARY In man, chronic elevated systemic levels of compounds possessing electron-transfer properties are typically associated with one or more of a triad of characteristic. signs. These are psychosis, dyskinesia, and abnormalities in pigmentation. The possible in vivo interactions of such compounds are discussed. INTRODUCTION While there is strong indirect evidence for biological factors in the etiology of the heterogeneous group of psychiatric disorders known as "schizophrenia (1-3) and also in the etiology of various movement disorders such as parkinsonism (4) no single etiological factor has as yet been well defined in either class- of disease.
SearchBug Directory: Health: Conditions_and_Diseases: Neurological_Disorders: Br
exclusively to heart health cardiology encyclopedia, news, community, animations and more. More websites like these . homocystinuria,
http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/Neurologi

Extractions: Web Pages - ranked by popularity NORD: Homocystinuria http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Homocystinuria Offers alternative names, a general discussion and further resources. Pediatric Database http://www.icondata.com/health/pedbase/files/HOMOCYST.HTM A definition of homocystinuria, followed by epidemiology, pathogenesis, clinical features, investigations and management. Homocystinuria http://www.tylerforlife.com/Disorders/homocystinuria.htm An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program.
Gaucher's Disease
Index.
http://www.fpnotebook.com/END91.htm

Extractions: Home About Links Index ... Editor's Choice document.write(code); Advertisement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Gaucher's Disease Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Lysosomal storage disease Gangliosidosis Pathophysiology Inherited Inborn error of metabolism Disturbed Cerebroside metabolism Symptoms Abdominal heavy feeling Bone pain (at lesion sites) Signs Progressive Abdominal distention Splenomegaly Hepatomegaly Conjunctiva with brown pigmentation Skin with brown to yellow discoloration
A Parent S Resource On Newborn Screening
Search Our Site! The TYLER FOR LIFE FOUNDATION is now Save Babies Through Screening Foundation and our website has moved!! We
http://www.tylerforlife.com/
Homocystinuria 's Home Page
http://www.geocities.com/EnchantedForest/Fountain/2388/

Extractions: The eyedoctor at Saint-Justine's Hospital(a children's hospital in Montreal) had ordered some tests for me. They found out that I had " homocystinuria . Every week I had to go and get my blood tested to make sure that my homocystine levels were not high and if they were I had to increase my medication. Once the medication (Betaine) was suitable for me then I had to go every couple months.

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