She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors [books.google.com]

Gaucher Disease October 15, 2018 by Peter Ciszewski Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. [checkrare.com]

disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2 1G A) 81252 GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence 81253 GJB2 (gap junction protein, beta 2, 26kDa [unicare.com]

Hemangiomas at the larynx had caused dyspnea and those in the oral cavity led to recurrent bleeding, requiring several surgical removals. These multiple and debilitating hemangiomas have never been previously reported in patients with MC-HGA. [ncbi.nlm.nih.gov]

Adresse Birmingham, United Kingdom, September 4-7, 2012 Série Journal of Inherited Metabolic Diseases Notes Document Type:Meeting Abstract Résumé Metaphyseal chondromatosis with hydroxyglutaric aciduria (MC-HGA) is a generalized skeletal dysplasia, accompanied [serval.unil.ch]

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunicty. Nat Genet. 2011;43:132–7. PubMed CrossRef Google Scholar 13. [link.springer.com]

New topics in the skeletal dysplasias. Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):143-4. Epub 2012 Jul 12. Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. [pubfacts.com]

Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias. [kriso.ee]

Scott A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay Download onlinelibrary.wiley.com Steven H. Abman, Amina Ahmed, Marilee C. Allen, David Askenazi, Stephen A. Back, H. [dissem.in]

The vertebral bodies revealed platyspondyly with irregular, stippled endplates. D-2-HGA has been described as a neurometabolic disorder manifesting a broad range of impairment in mental and motor development. [ncbi.nlm.nih.gov]

Robin Syndrome PIGN Mutation Pitt Hopkins syndrome (PTHS) Pituitary Conditions Poland Syndrome Polycystic Kidney Disease Polycythaemia Polymicrogyria (PMG) Polyostotic Fibrous Dysplasia Pompe Disease Pontine Tegmental Cap Dysplasia Popliteal Pterygium [geneticalliance.org.au]

Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial [se-atlas.de]

Thus, our report will facilitate the recognition of this distinctive entity, and we suggest that a urine organic acid screening be obtained in patients who present with generalized enchondromatosis. [ncbi.nlm.nih.gov]

Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. [genecards.org]

This gene had only been associated with autosomal recessive RP; finding that it acts in dominant fashion suggests previously unknown routes of disease pathogenesis and new therapeutic possibilities. [massgenomics.org]

Behavioral variant of frontotemporal dementia Estrogen resistance syndrome Idiopathic aplastic anemia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Progressive non-fluent aphasia Semantic dementia Shwachman-Diamond syndrome Spastic [csbg.cnb.csic.es]

paraplegia-Paget disease of bone syndrome Spastic paraplegia-epilepsy-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Splenogonadal [se-atlas.de]

Paraplegia 4 Deletion and duplication analysis; Sequencing of all coding exons of the gene - - 1.9 SPATA5 Epilepsy, hearing loss and mental retardation syndrome Sequencing of all coding exons of the gene - - 2.7 SPG11 Spastic paraplegia 11 Sequencing [cegat.de]

Paraplegia Hereditary Spherocytosis Hermansky Pudlak Syndrome Het Werner Syndrome Hexokinase Deficiency Hirschsprung Disease Holoprosencephaly Holt Oram Syndrome Holt-Oram Syndrome Homocystinuria Homolateral Brain Syndrome Horner's syndrome Hunter Syndrome [geneticalliance.org.au]

Keywords IDH1 Mutation Tubular Bone Cerebral Calcification Urine Organic Acid Analysis Neurometabolic Disorder These keywords were added by machine and not by the authors. [link.springer.com]

[…] to VCP mutation Amyotrophic lateral sclerosis Behavioral variant of frontotemporal dementia Estrogen resistance syndrome Idiopathic aplastic anemia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Progressive non-fluent aphasia [csbg.cnb.csic.es]