81. Was Ist Morbus Niemann-pick Translate this page Niemann - Pick - Erkrankung. Was ist Morbus niemann-pick? Morbus niemann-pickist eine autosomal-rezessive Erbkrankheit. Bei allen http://home.t-online.de/home/norbert-kerstin.krebs/wasistnp.htm

Niemann - Pick - Erkrankung Was ist Morbus Niemann-Pick? Morbus Niemann-Pick ist eine autosomal-rezessive Erbkrankheit. Bei Typ B besteht eine normale Lebenserwartung. Niemann-Pick-Selbsthilfegruppe e.V. email: info@niemann-pick.de Telefon + Fax: 06897 / 72672

82. Wie Erkennt Man Niemann-Pick Translate this page Niemann - Pick - Erkrankung. Wie erkennt Morbus niemann-pick? TypA, Typ B, Typ C. - verlängerte Neugeborenengelbsucht - Leber- und http://home.t-online.de/home/norbert-kerstin.krebs/wieerkenntmannp.htm

Niemann - Pick - Erkrankung Wie erkennt Morbus Niemann-Pick? Typ A Typ B Typ C - sofortige Beeinflussung des Zentralen Nervensystems (ZNS) - Tod im Alter von 2-5 Jahren - wenige bis keine neuronalen Beeinflussung - Lungeninfiltrate und dadurch - bei entsprechender Behandlung der Infekte normale Lebenserwartung - eindeutige Unterscheidung von Typ A und B durch biochemische Untersuchung - schrittweises verlernen erworbener - Einlagerung von Cholesterin in - je nach Tempo der ZNS-Beeinflussung Tod im Alter von 2 bis 20 Jahre Niemann-Pick-Selbsthilfegruppe e.V. email: info@niemann-pick.de Telefon + Fax: 06897 / 72672

83. John F. Kennedy Instituttet - Niemann-Pick Indikation Mistanke om niemannpick's sygdom sphingomyelin lipidose, type Aog B, med hepato-splenomegali, kirsebærrød plet i retina og skumceller http://www.kennedy.dk/Kennedy Instituttet/Ringbind/Niemann-Pick.htm

84. Accueil Translate this page Aidons MC Recherches sur la maladie niemann-pick C Association Loi 1901 crééele 7 Juillet 1994. 23 Route du Meunier 44500 ESCOUBLAC-LA BAULE. http://orphanet.infobiogen.fr/associations/AIDONSMC/AIDONSMC.html

Accueil Accueil Avez-vous pris connaissance de la Maladie NIEMANN-PICK C ? Pourquoi ? Comment ? ... Nous contacter Aidons MC Recherches sur la maladie Niemann-Pick C Association Loi 1901 créée le 7 Juillet 1994 23 Route du Meunier 44500 ESCOUBLAC-LA BAULE Tél: 02 40 24 32 64 e-mail: aidonsmc.niemannpickc@wanadoo.fr (c) Martine TREHUDIC Auteur : Mme Martine TREHUDIC Date de création de la page : 13/06/2002 Date de dernière mise à jour : 24/03/2003

85. Health Ency.: Disease: Niemann-Pick niemannpick. Alternative names Sphingomyelinase deficiency (type Aniemann-pick disease). Definition niemann-pick disease is caused http://www.accessatlanta.com/shared/health/adam/ency/article/001207.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease N Niemann-Pick Overview Symptoms Treatment Prevention Alternative names: Sphingomyelinase deficiency (type A Niemann-Pick disease) Definition: Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C. Causes and Risks All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Type C Niemann-Pick is very different from types A and B. Patients with Type C are not able to metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. The defect in metabolism occasionally leads to a secondary reduction in ASM activity in some cells.

86. TAU Research Authority - National Niemann-Pick Disease Foundation National niemannpick Disease Foundation (NNPDF), USA (1260) - Medical Research Program- Research Grants Medicine, Life Sciences, Exact Sciences, Engineering. http://www.tau.ac.il/Research-Authority/announce/nnpdf.html

87. Jewish Genetic Diseases Program - What Is A Jewish Genetic Disease niemannpick Disease. niemann-pick DISEASE refers to a group of neurodegenerativedisorders. niemann-pick Type A is caused by an enzyme deficiency. http://www.sbhcs.com/genetics/offer/nie.html

Niemann-Pick Disease NIEMANN-PICK DISEASE refers to a group of neurodegenerative disorders. Type A is most frequent among Ashkenazi Jews. Symptoms include enlargement of the liver and spleen, poor growth and loss of brain function. There is no cure at this time. Life expectancy is about 2-4 years of age. The carrier rate of Niemann-Pick Type A in Ashkenazi Jews is about 1 in 90. Niemann-Pick Type A is caused by an enzyme deficiency. Enzyme measurement is not reliable for carrier testing. DNA mutation analysis detects about 95% of Ashkenazi Jewish carriers. Resources: National Niemann-Pick Foundation P.O. Box 49 415 Madison Avenue Fort Atkinson WI 53538 Toll free: 1-877-CURE-NPC Fax: Email: nnpdf@idcnet.com Website: www.nnpdf.org International Center for Types A and B Niemann-Pick Disease Department of Human Genetics Mount Sinai School of Medicine 1425 Madison Ave. New York, New York 10029

88. Roche Lexikon Medizin (4. Aufl.) - Niemann*-Pick* Krankheit Translate this page Niemann*-Pick* Krankheit. Sphingomyelinose Biogr. ALBERT N., 1880–1921,Kinderarzt, Berlin LUDWIG P. C) engl. niemann-pick disease. http://www.gesundheit.de/roche/ro25000/r26919.html

Niemann*-Pick* Krankheit Sphingomyelinose Biogr.: A LBERT UDWIG P. Gruppe autosomal-rezessiv erblicher Sphingolipidosen N.*-P.* Zellen A) klassische N.*-P.* Krankheit B) im Kindesalter auftretend, mit langsamem Verlauf; Symptome: v.a. Hepatosplenomegalie, keine Gehirnbeteiligung; C) engl.: Niemann-Pick disease D (vermutlich keine Sphingolipidose) u. Typ E Verwandte Themen Phosphatid(lipoid)ose Pick* Krankheit, Syndrom Retikulose Sphingolip(o)idosen ... Wolman* Krankheit

89. Niemann-Pick - Información General Translate this page niemann-pick - Información general. - Células espumosas de niemann-pick. http://pcs.adam.com/ency/article/001207.htm

Regresar a " - " Partes del cuerpo Enfermedades Lesiones Envenenamiento Temas especiales ... V W X Y Z Enfermedades ... Z Niemann-Pick - Información general Células espumosas de Niemann-Pick Información general Prevención Síntomas Tratamiento Definición: Enfermedad hereditaria caracterizada por almacenamiento anormal de colesterol y esfingomielina en varios tejidos corporales y daño neurológico progresivo. Causas, incidencia y factores de riesgo: La enfermedad de Niemann-Pick (Tipo A) se hereda como un trastorno autosómico recesivo y es más frecuente entre los judíos asquenacis que en cualquier otro grupo étnico. La enfermedad se produce por la ausencia de una enzima , la esfingomielinasa, dando como resultado el almacenamiento de cantidades anormales de esfingomielina y colesterol en el cerebro, la médula espinal, el hígado y el bazo. El daño cerebral es lo que origina los síntomas neurológicos. Los síntomas pueden comenzar en los primeros meses de vida con problemas de alimentación y retraso en el desarrollo motor. Aunque es posible lograr algunas habilidades motoras, hay una rápida regresión de éstas a medida que el niño pierde fuerza y tono muscular . Los demás daños neurológicos son pérdida de la visión y pérdida de la audición progresivas. La enfermedad avanza con rapidez y la muerte ocurre en los primeros años de vida.

90. National Niemann-Pick Disease Foundation, Inc. Return to Search Page National niemannpick Disease Foundation, Inc. E-mail nnpdf@idcnet.com.Conditions niemann-pick disease. Hours Answered MF, 8-5 http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Nation

91. Fundación Niemann Pick España Fundación Niemann Pick de España http://www.fundniemannpick.org/

Bienvenido a la página de la Fundación Niemann Pick de España

92. Niemann Pick Type C Niemann Pick Type C Disease. http://www.mayo.edu/pagano_lab/NPC_disease.html

Niemann Pick Type C Disease Research Research Overview Specific Projects Endocytosis, sorting, and transport of SLs Sphingolipid enzymology ... Applying for a Post-doctoral Position Niemann-Pick disease type C (NP-C) is an autosomal recessive neurovisceral lipid storage disorder leading to systemic and neurologic abnormalities. NP-C has prevalence of approximately 1:150,000, making it more common than NP-A or NP-B diseases combined. Cells from NP-C patients are defective in the release of cholesterol from lysosomes. The lysosomal sequestration of LDL-derived cholesterol results in cholesterol processing errors, including delayed down-regulation of the LDL receptor and delayed de novo synthesis of cholesterol, as well as repressed cholesterol esterification. As noted under "Lipid Storage Diseases," cholesterol accumulation in NP-C cells also leads to defects in membrane trafficking of glycosphingolipids which are internalized from the plasma membrane by a clathrin-independent, caveolar-related mechanism. In a recent study we found that over-expression of wild type rab7 or rab9 (but not rab11) in Niemann Pick C (NP-C) lipid storage disease fibroblasts resulted in correction of lipid trafficking defects, including restoration of Golgi targeting of fluorescent lactosylceramide (Fig. 1) and endogenous GM1 ganglioside (data not shown), and a dramatic reduction in accumulation of intracellular cholesterol (Fig. 2). Our results demonstrate a role for rab7 and rab9 in the Golgi targeting of glycosphingolipids and suggest a new therapeutic approach for restoring normal lipid trafficking in NP-C cells in which vesicle trafficking and sorting along the endocytic pathway are modulated by over-expression of rab proteins thereby promoting the clearance of stored lipids.

93. Atlas Niemann Pick Type C Disease Translate this page ATLAS DE PEDIATRIE. Niemann Pick disease. INDEX. Pneumopathie infiltrative Infiltrativepneumonia. Macrophage spumeux dans le foie / Spumous macrophage in liver. http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas4.htm

ATLAS DE PEDIATRIE Niemann Pick disease INDEX Pneumopathie infiltrative Infiltrative pneumonia Macrophage spumeux dans le foie / Spumous macrophage in liver courtesy Dr SGosseye Macrophage spumeux dans la moelle Spumous cells in bone marrow courtesy Pr JM Scheiff Sea blue histiocytes Buffy Coat courtesy Pr JM Scheiff Patient atteint de maladie de Niemann-Pick de type C: cholestase, splénomégalie de surcharge, hypotonie, paralysie nerfs craniens, pneumonie de surcharge avec désaturation. L'histologie hépatique et médullaire montre les macrophages spumeux. Sur Buffy Coat, on detecte les "sea blue histiocytes" This young child has Niemann Pick disease type C. Neonatal cholestasis, splenomegaly due to storage, hypotonia, infiltrative pneumonia with hypoxia and later cranial nerve paralysis. Typical blue sea histiocytes can be detected on the buffy coat. Spumous cells can be found in the bone marrow and the liver.

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