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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 4 messages/2 PT Req.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Fri, 17 Jan 1997 12:18:11 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

**************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains  4 submessage(s):


1) Pyruvate kinase deficiency--PT request

2) FSP/HSP--PT Request

3) Noonan Syndrome and Retinoblastoma

4) Galactosemia



Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section
********************************************************************************



1.  Pyruvate Kinase Deficiency--Pt Request
Apparent Patient Location: United States
REPLY DIRECTLY TO HUM-MOLGEN

I need information on pyruvate kinase deficiency.  My eight-month old
granddaughter has had four blood transfusions and they are
now discussing a bone marrow transplant.  From the case studies
on the internet, I was under the impression a splenectomy would
be the first choice.  No one in the state is familiar with this
deficiency.  Please help!
Thanks
--------------------------------------------------------------------------------

2. Subject: FSP/HSP
Apparent patient location: Ireland
REPLY DIRECTLY TO HUM-MOLGEN

Dear Sir/Madam,

Firstly I have the condition mentioned. It is known by a few differant names.

F.S.P          Familial Spastic Paraplegia

H.S.P          Hereditary Spastic Paraplegia

Strumpell`s disease.

I am interested in information about the condition and also work/treatments.
---------------------------------------------------------------------

3. Noonan Syndrome and Retinoblastoma

Hi everybody,
We have seen a mother and her son with Noonan syndrome. Another
sister, apparently unaffected by Noonan syndrome, has bilateral
retinoblastoma. The mother is pregnant.
1. Does anybody have suggestions as to a possible connection between
the two conditions ?
2. Can anybody help in prenatal diagnosis of Noonan syndrome?
3. What is the recurrence risk of sporadic retinoblastoma?
Thanks for your help.
Moshe Frydman MD
Genetics Institute
Sheba Medical Center
Tel Hashomer
Israel
E-mail mfrydman@post.tau.ac.il
Fax 972-3-5302914
--------------------------------------------------------------------------------

 4. Galactosemia
I need information about restriction of dietary galactose during
pregnancy in women who have had chidren with galactosemia.
Prof.Giancarlo Biasini
Ospedale "Bufalini" CESENA Italy
email address: gibia@CESSN.UNIBO.IT

-------------------------------------------------------------



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