81. Knud Haraldsen Krabbe (www.whonamedit.com) Frederiksberg; died 1965. Associated with Alpers' disease,krabbe'sdisease,krabbe's syndrome II,SturgeWeber syndrome. Who named it? http://www.whonamedit.com/doctor.cfm/1432.html

Home List categories Eponyms A-Z Biographies by country ... Contact Knud Haraldsen Krabbe Danish neurologist, born March 3, 1885, Frederiksberg; died 1965. Associated eponyms: Alpers' disease A rare degenerative disease of the brain, predominantly involving the grey matter. Krabbe's disease An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. Krabbe's syndrome II Historical term for congenital myopathies with generalised atrophy of the musculature. Sturge-Weber syndrome A congenital disorder involving the brain, skin and eyes. Biography: Knud (Haraldsen) Krabbe is one of the major figures in Nordic neurology. He was an exceptionally gifted researcher, publishing his first scientific paper, on a biological topic, at the age of ten years. He spoke Greek at the age of three years. Born into a medical family, Krabbe in initially intended to study zoology, but changed his mind and entered the medical school of the University of Copenhagen. He was professor of neurology and chief of the neurological service of the Kommunehospitalet in Copenhagen from 1933 to 1955.Krabbe was interested in comparative anatomy and studied the morphogenesis of the brain of submammalian species. He championed the theory that many cerebral haemorrhages were secondary to vascular malformation. Despite being affected by Parkinsonism, Krabbe continued to write articles up to his death at the age of 80 years. Knud Krabbe founded the journal Acta psychiatrica et neurologica scandinavica in 1926 and was its editor for almost 30 years. In 1927 he published a textbook of neurology.

82. GCL, Krabbe's Disease, Globoid Cell Leukodystrophy Globoid Cell Leukodystrophy GCL aka krabbe's disease by George JonesGloboid Cell Leukodystrophy is a degenerative disease of the http://www.barkbytes.com/medical/med0073.htm

Globoid Cell Leukodystrophy GCL a.k.a. Krabbe's Disease by George Jones Globoid Cell Leukodystrophy is a degenerative disease of the white matter of the brain and spinal cord, and also tied in with this is the loss of myelin , which is a fatty substance that forms the outer sheath around many nerve cells. What causes this loss is a genetic deficiency of an enzyme that is involved in breaking down certain lipids (fats) in the brain and spinal cord. GCL has been seen in puppies as young as four weeks of age, and as late as five months. The disease progresses very rapidly, resulting in death usually within two to three months after the onset of the clinical signs of the disease. There is currently no treatment for GCL. The clinical signs for GCL are: loss of coordination, failure to recognize familiar individuals (people or other pets), stumbling, blindness, weakness, tail tremors, total limb paralysis, and lack of response to pain. GCL has been found primarily in the bloodlines of West Highland White Terriers and Cairn Terriers, although it has been detected among other breeds as well. It is imperative that breeding stock be checked for this condition due to its being autosomal recessive (genetically passed on from one generation to another). In order for any autosomal recessive characteristic to appear in an offspring, both parents must either be carriers, or have the recessive characteristic. A blood test can determine the carrier (s) of this disease.

83. Krabbe's Disease Expand your medical search to other sites by only one click . ForMedical Professionals only. krabbe's disease,, Print this article, http://www.amershamhealth.com/medcyclopaedia/Volume VII/KRABBES DISEASE.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Krabbe's disease, (Knud H. Krabbe,1885–1961, Danish neurologist), neurodegenerative disease associated with lysosomal galactocerebroside galactosidase deficiency. It is one of the leucodystrophies. Infants present clinically with irritability, pyrexia of unknown origin, hypertonia, feeding difficulty, or fits and progressive quadriparesis, become decerebrate and microcephalic. On imaging there is high signal intensity on the periventricular and cerebellar white matter on T2-weighted sequences. See globoid cell leukodystrophy HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia.

84. Krabbe's Disease Professionals only. krabbe's disease,, Print this article, (Knud H.krabbe,1885–1961, Danish neurologist), neurodegenerative disease http://www.amershamhealth.com/medcyclopaedia/Volume VII/Krabbes disease.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Krabbe's disease, (Knud H. Krabbe,1885–1961, Danish neurologist), neurodegenerative disease associated with lysosomal galactocerebroside galactosidase deficiency. It is one of the leucodystrophies. Infants present clinically with irritability, pyrexia of unknown origin, hypertonia, feeding difficulty, or fits and progressive quadriparesis, become decerebrate and microcephalic. On imaging there is high signal intensity on the periventricular and cerebellar white matter on T2-weighted sequences. See globoid cell leukodystrophy HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia.

85. Index.htm krabbe's disease Joseph's Story. For medical information about krabbe's diseaseand links to other helpful sites, check out http//www.krabbedisease.com. http://home1.gte.net/robmil/

Joseph Miller Robinson September 12, 1996 - April 4, 1998 Krabbe's Disease Joseph's Story Joey has a baby sister! Click here to see her picture! Joseph's Memorial - pictures of Joseph's gravestone which was finally placed (7/15/99) Joseph's Journey - an overview of Joseph's life, including therapies we tried. Our Son Joseph - written by Joseph's Daddy. This was printed and placed in bulletins at Joseph's memorial services. Joseph's Photo Album - a few of our favorite memories. Physical, Speech and Aquatic Therapy - our experiences with Joseph. Positioning Devices - some things we came up with to help make Joseph more comfortable. When a Child Dies - a new page on the grieving process. Information will be added as we figure things out. And a little child will lead them prints and notecards to benefit Hunter's Hope. Friends - some beautiful children that we've met since learning the word Krabbe's.

86. KRABBE'S DISEASE krabbe'S disease. This article submitted by Dr Jane MacPherson on 3/26/96.Author's Email macphers@gem.co.za I'm looking for information http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/KRABBESDIS

KRABBE'S DISEASE This article submitted by Dr Jane MacPherson on 3/26/96. Author's Email: macphers@gem.co.za I'm looking for information on this form of leukodystrophy in infants, specifically in the clinical aspect and prognosis. Please reply as I need the information urgently. Next Article Return to Topic Menu Here is a list of responses that have been posted to this article... Krabbes Disease (2/6/97) 11:45 AM Re:KABBEs (11/16/96) 2:00 PM Need info (4/16/96) 9:52 AM SR. Programmer (3/28/96) 8:12 PM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") or other "special" characters in your Article title! Also, please be sure to make your Response Title something descriptive...NOT the same title as the original article.. Response Title: Author: Author Email: Response Text: Original Article: (Don't change this field!) Forum: (Don't change this field either!)

87. Krabbe's Disease - General Practice Notebook medical information from General Practice Notebook. krabbe's disease.krabbe's disease is an autosomal recessive disease caused by http://www.gpnotebook.co.uk/cache/-1831862235.htm

Krabbe's disease Krabbe's disease is an autosomal recessive disease caused by a deficiency of galactocerebroside B galactosidase which results in an accumulation of galactocerebroside. The patient presents in the first 6 months of life with: rigidity instability decreased alertness Later, the child becomes blind and deaf. The disease is fatal within a year. Click here for more information...

88. Krabbe's Disease while wife Jill, right, holds son, Hunter, in this undated 1997 file photo in OrchardPark, NY Doctors have diagnosed Hunter with krabbe's disease, which is http://www.news-star.com/stories/082397/sprts3.html

Retired Buffalo Bills quarterback Jim Kelly holds daughter Erin, left, while wife Jill, right, holds son, Hunter, in this undated 1997 file photo in Orchard Park, N.Y. Doctors have diagnosed Hunter with Krabbe's disease, which is usually fatal by age 4. Kelly's son fighting for life against rare disease ORCHARD PARK, N.Y. (AP) Erin Marie Kelly was running around her house with a doll in one arm, the Winnie the Pooh character Piglet in the other and spaghetti on her face. Jim Kelly's 2-year-old daughter is the lucky one in the family. She experiences neither the physical problems of her 6-month-old brother, Hunter James, nor the emotional anguish felt by her parents. Erin doesn't understand that Hunter is dying from Krabbe's disease, a rare disorder that kills almost every victim before age 4. She doesn't realize that she had a 25 percent chance of getting the illness herself. Erin knows that Hunter doesn't feel good: He cries continuously and doesn't play with his toys. Her nightly prayers are to help her brother feel better on his way to heaven. If only there was another way to get there. "She doesn't have any idea," her mother, Jill Kelly, said at the family home.

89. Health.iafrica.com | Doc Online | Ask The Doctor | Genetic Illness Krabbe's Dise GENETIC ILLNESS krabbe's disease. Question. What is krabbe's disease?Answer. krabbe's disease is one of a rare, inheritable group http://health.iafrica.com/doconline/qa/genetic/krabbes_disease.htm

Communities: [ h o m e ] Advice Africa Afrikaans Aids Wise Business Cars Careers Cooltech Easy Money Entertainment Fun Stuff Games Highlife Men Motoring My Money News Sport Talk Travel Weather Win Women Services: Book Airtickets Chat Online Classifieds Directories Ecards Homeloans Mobile Magic myiafrica.com Property Search Shop Online Streetfinder Search Mon, 31 Mar 2003 DIET AND HEALTH DOC ONLINE allergies breast cancer ... HEALTH NEWS You are in: Doc Online Ask The Doctor Genetic Illness ASK THE DOCTOR allergies blood diseases cancer cardiac diseases ... skin disorders GENETIC ILLNESS Krabbe's disease Question What is Krabbe's disease? Answer Krabbe's disease is one of a rare, inheritable group of diseases known as lipidoses, which are disorders of lipid metabolism due to deficiencies in the enzymes which digest lipids. Others include Tay-Sachs Disease, generalised gangliosidosis and sulfatide lipidosis. Krabbe's disease, also known as galactosylceramide lipidosis, is a fatal disease, which occurs in infancy. The symptoms are progressive retardation, paralysis, blindness and deafness. It is due to a deficiency of the enzyme galactocerebroside ß-galactosidase. These can be tested for prenatally by sampling amniotic fluid or the chorionic villi. There is no treatment yet known. [an error occurred while processing this directive] PRIVATE LABEL FEEDBACK ABOUT US HOSTING ... Terms and Conditions

90. Genetics Krabbes krabbe's disease. Hunter Family Hunter's Hope Homepage Definition. krabbe'sdisease, also known as Globoid Cell Leukodystrophy, is very deadly disease. http://www.atchison.k12.ks.us/gifted/geneticskrabbes.htm

91. Exam 4 -- Question 36 krabbe's disease involves a mutation in galactocerebroside betagalactosidase, whichnormally catabolizes galactocerebroside a glycolipid associated with http://www.ohsu.edu/som-Nsb/PracticeExams/Exam IV/Question 36/E4.Q36.A.html

Practice for Exam IV 36. Which of the following inborn errors of metabolism does NOT involve the accumulation of glycolipids? A. Krabbe's disease B. Tay-Sach's disease C. Sandhoff's disease D. Gaucher's disease ... Practice Exam HomePage Questions for Exam IV: A. Incorrect. Krabbe's disease involves a mutation in galactocerebroside beta-galactosidase, which normally catabolizes galactocerebroside a glycolipid associated with myelin.

92. Patient 37 Selftest via autosomal recessive inheritance EXCEPT A. metachromatic leukodystrophy B.globoid cell leukodystrophy (krabbe's disease) C. adrenoleukodystrophy D http://www.bcm.tmc.edu/neurol/challeng/pat37/selftest.html

Patient #37 Metachromatic Leukodystrophy 1. All of the following diseases are transmitted via autosomal recessive inheritance EXCEPT: A. metachromatic leukodystrophy B. globoid cell leukodystrophy (Krabbe's disease) C. adrenoleukodystrophy D. aspartoacylase deficiency (Canavan disease) 2. Which ONE of the following diseases DOES NOT affect the peripheral nervous system? A. metachromatic leukodystrophy B. globoid cell leukodystrophy (Krabbe disease) C. Canavan disease D. Cockayne disease 3. Which pairing of disease to the associated pathologic feature is NOT CORRECT? A. Krabbe disease - globoid cells B. Canavan disease - Rosenthal fibers C. MLD - demyelination and deposits of granules D. Mitochondrial myopathies - ragged red fibers 4. Which of the following are NOT available treatment options for patient affected with MDL? A. antiepileptics B. enzyme replacement therapy C. bone marrow transplantation D. antispasticity agents 5. Which of the following pairings of disease with the associated enzyme deficiency is NOT CORRECT? A.

93. TUMC Grand Rounds - Fall '99 The grant will fund the study of gene therapy as a treatment for krabbe's disease a rare, degenerative, inherited condition that is usually fatal by age two http://www.som.tulane.edu/news/GrandRounds/Fall99/default.html

Volume 4, Number 2 Summer 1999 Grand Rounds is published quarterly by the Office of Medical Center Advancement. Editor Stacy Day Editorial Board Rebecca Conwell, legislative coordinator ; Robyn Ekings, director, public relations ; Mary Anne Lachowsky, director of alumni relations and annual giving ; Fran SImon, consultant, public relations ; Laine Thomas, assistant director of alumni relations and annual giving ; Peggy Williams, administrative assistant Vice Chancellor Patricia C. Mason Website Design Alanna Clare TUMC Data Systems Web Development , based on hard-copy design by Tom Varisco, Robb Harskamp Contributor Susan Sarver Hunter's Hope by Stacy Day Football player turned philanthropist Jim Kelly was at Tulane University Medical Center July 23 to announce a $199,000 grant to the Tulane Regional Primate Research Center from Hunter's Hope Foundation. The grant will fund the study of gene therapy as a treatment for Krabbe's disease a rare, degenerative, inherited condition that is usually fatal by age two and other leukodystrophies and brain diseases. About 40 babies are born with Krabbe's disease each year in the United States. At the news conference, Kelly the retired quarterback of the Buffalo Bills with four Super Bowls to his credit spoke to the press and medical community as a father and as a funder. Kelly's son, Hunter James, in whose name the foundation was established, was born with the disease in 1997 on Valentine's day, a birth date he shares with his father. With a large portrait of his son as a backdrop, Kelly described Hunter as "the real fighter in the family."

94. Diagnosis Case 5 Final Diagnosis. krabbe's disease. More About krabbe's disease (globoid cell leukodystrophy) Lysosomal storage disease. Autosomal recessive inheritance. http://sprojects.mmi.mcgill.ca/neuropath/case5/5diag.htm

Final Diagnosis Krabbe's disease Clinical Discussion: Infantile Krabbe's disease (a genetic disorder of the white matter) seems like a probable diagnosis since there is increased tone, opisthotonus, abnormal nerve conductions, and central white matter abnormalities on imaging. Other genetic disorders of white matter are possible. However, Canavan's disease and Alexander's disease usually have macrocephaly. Adrenoleukodystrophy usually has a later onset and very severe demyelination seen on MRI of the brain. In this case, the diagnosis of Krabbe's was confirmed by mesuring the patient's white blood cells galactosylceramide- b -galactosidase activity, which was less than 2% of the mean activity of normal individuals. Microscopic Discussion: The muscle biopsy showed histochemical type I fiber smallness or hypotrophy and intramuscular nerves with evidence of lysosomal storage in sheath cells. The nerve showed severe damage with a picture of lysosomal storage in numerous cells, both on the epon and cryostat sections. Electron microscopic examination would be necessary to confirm the nature of the storage and to characterize the storage material. In the clinical context and in light of the overall pathological picture, the diagnosis of Krabbe's disease (galactocerebrosidase deficiency) is the most likely diagnosis. A beta-galactosidase enzymatic assay on leukocytes from blood confirmed the diagnosis.

95. Krabbes Disease Homepage (CJ's Page) elcome to our site! This site is devoted to our son CJ and all the otherchildren with Krabbes disease. CJ was diagnosed with Krabbes http://members.aol.com/getinmerry/krabbes.html

elcome to our site! This site is devoted to our son CJ and all the other children with Krabbes disease. CJ was diagnosed with Krabbes at 5 months old; he is now 6 1/2 years old. We are Chuck, Jenn and CJ. 3 1/2 years ago we were blessed with a beautiful daughter we named Samantha. Samantha was tested for Krabbes and found to be a carrier but not affected. We live just outside Buffalo, NY. We both work full time jobs, but different shifts so one of us is always home with CJ. We have never been away from CJ for more than a few hours because child care is nearly impossible to obtain. CJ is an unusual case; he is extremely old for an infantile case of Krabbes. Basic Information Our Story Hints and Tips 1 Hints and Tips 2 ... Favorite Links Please note: Email us here Updated 1-22-02 You are the visitor to see CJ!

96. Krabbes Disease Homepage (CJ's Page) Outlines the typical course of the disease and offers links to research trusts and support organizations. http://members.aol.com/GETINMERRY/krabbes.html

elcome to our site! This site is devoted to our son CJ and all the other children with Krabbes disease. CJ was diagnosed with Krabbes at 5 months old; he is now 6 1/2 years old. We are Chuck, Jenn and CJ. 3 1/2 years ago we were blessed with a beautiful daughter we named Samantha. Samantha was tested for Krabbes and found to be a carrier but not affected. We live just outside Buffalo, NY. We both work full time jobs, but different shifts so one of us is always home with CJ. We have never been away from CJ for more than a few hours because child care is nearly impossible to obtain. CJ is an unusual case; he is extremely old for an infantile case of Krabbes. Basic Information Our Story Hints and Tips 1 Hints and Tips 2 ... Favorite Links Please note: Email us here Updated 1-22-02 You are the visitor to see CJ!

97. Krabbes Disease Edit this Page Attachments to this Page History of this Page Home Recent ChangesSearch the Swiki Help Guide Krabbes disease. Excellent list of references. http://pbl.cc.gatech.edu/mindy/914

Krabbes Disease Excellent list of references. Fine presentation of material. Where did the name "Krabbes" come from (history?). Background of Krabbe's Disease Prognosis/Incidence Rate of Krabbe's Disease Current Treatment of Krabbe's Disease Prevention of Krabbe's Disease ... Future Areas of Research of Krabbe's Disease Link to this Page Fall 2002 HPS/BIOL 3751 Project topics last edited on 5 December 2002 at 12:36:17 pm by bh107-02.che.gatech.edu

98. Demographic Study transplantation. Some children have already been transplanted for Krabbedisease with great success. This is an INTERNATIONAL STUDY. http://www.krabbes.com/demographic_study/

Krabbe Demographic Study We are collecting the data in this study first and foremost to advocate for Newborn Screening for Krabbe Leukodystrophy. With Newborn Screening families can seek effective treatment which halts the disease process by supplying the missing enzyme through stem cell transplantation. Some children have already been transplanted for Krabbe disease with great success. Th is is an INTERNATIONAL STUDY. There are several researchers currently working on a test that will detect Krabbe Disease at birth. In order to make newborn screening for this disease a reality we must show a prevalence rate for Krabbe Leukodystrophy. By participating in this study we are proving that this disease has an incidence rate that will warrant testing at birth. In the United States the incidence rate is 1 in 40,000 births. In Sweden it is 1 in 25,000 births. The Druze people of Israel have an incidence rate of 6 in 1000 births. Sicily Italy, Japan and Australia have also shown that there is a high birthrate of babies born with Krabbe disease in those countries. In finding children from all over the world we are able to show that this disease is much more common than once believed. The second reason for the study is to expand awareness and support amongst families who have been affected by Krabbe. There is an optional box to check below to let us know if you would for this information to be provided to other families. Raising awareness about the disease helps the family to have more support, better care for the child and understanding of the disease. It also provides support to families who have already lost a child to Krabbe. Raising awareness is a key component in making Newborn Screening a reality.

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