Fabry's disease and hypoparathyroidism;Maladie de Fabry et hypoparathyroïdie

Annales de Medecine Interne

Volumn 153, Issue 4, 2002, Pages 283-285

  Misery, Laurent ^a,e   Gregoire, Madeleine ^a   Prieur, Fabienne ^b   Froissart, Régis ^c   Guffon, Nathalie ^d   Maitre, Séverine ^a   Fond, Laurent ^a   Denis, Laurence ^a   Perrot, Jean Luc ^a   Cambazard, Frédéric ^a  

^a Service de dermatologie   (France)

^b HÔPITAL NORD   (France)

^c Service de Biochimie Pédiatrique   (France)

^d HÔPITAL DEBROUSSE   (France)

^e CHU MORVAN   (France)

Author keywords

Fabry's disease; Hypoparathyroidism

Indexed keywords

ALPHA GALACTOSIDASE; CERAMIDE DERIVATIVE; SPHINGOLIPID;

ABDOMINAL PAIN; ADULT; ARTICLE; BUTTOCK; CASE REPORT; CLINICAL FEATURE; CORNEA DISEASE; DIARRHEA; DISEASE ASSOCIATION; FABRY DISEASE; FOOT; GENETIC PREDISPOSITION; HAND; HEMANGIOKERATOMA; HIP; HUMAN; HYPOPARATHYROIDISM; LIPID STORAGE; MALE; PAIN; SLIT LAMP; SYMPTOM; TELANGIECTASIA; UMBILICUS; X CHROMOSOME LINKED DISORDER;

ABDOMINAL PAIN; ADULT; CORNEAL DISEASES; DIARRHEA; FABRY DISEASE; HUMANS; HYPOPARATHYROIDISM; MALE; TELANGIECTASIS; X CHROMOSOME;

EID: 17444434681     PISSN: 0003410X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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4. Fabry's disease: Comparison of enzymatic, linkage and mutation analysis for carrier detection and prenatal diagnosis in a family with a novel mutation (30delG)
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14. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
15. Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27