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Successful Bone Marrow Transplantation in a Case Of Griscelli Disease which Presented in Accelerated Phase with Neurological Involvement
(Stockton Press, 1999)
Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations, Allogeneic BMT ...
Molecular Basis Of Hereditary C1Q Deficiency Associated With Sle And Iga Nephropathy In A Turkish Family
(Elsevier Science Inc, 1996)
Two siblings (case 1 and case 2) with homozygous C1q deficiency are described. Both presented with a photosensitive rash, and during follow-up case one developed SLE with nephrotic range proteinuria. Case 2 had microscopic ...
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)
Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ...
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (Rdrta2) to 7Q33-34
(Univ Chicago Press, 1999)
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline ...
Late Cardiac Effects After Treatment for Childhood Hodgkins-Disease with Chemotherapy and Low-Dose Radiotherapy
(British Med Journal Publ Group, 1995)
Twenty-four patients under 18 years when treated for Hodgkin's disease (20 male, four female) were examined no less than five years after the completion of the treatment. The mean age was 17 years (range 9.5-25.0 years) ...
Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development
(Amer Soc Clinical Investigation Inc, 1999)
Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We ...
Pcr Based Mutation Screening of The Laminin Alpha 2 Chain Gene (Lama2): Application to Prenatal Diagnosis and Search for Founder Effects in Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1998)
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha 2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based ...
Paraspinal Mass in a Childinfo:eu-repo/semantics/publishedVersion
(Bmj Publishing Group, 1996)
Refinement of the Laminin Alpha 2 Chain Locus To Human Chromosome 6Q2 in Severe and Mild Merosin Deficient Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1997)
About half of the children with classical congenital muscular dystrophy (CMD) show an absence in their skeletal muscle of laminin alpha 2 chain, one of the components of the extracellular matrix protein, merosin. Linkage ...