Joanne-Re: Dr. Enns see message # 57042

[Guest guest]

Hi Joanne, Check message # 57042 from Anne. I think this is

what you might be looking for. Hope you can make make contact

with her to get the info you need. I'm so sorry to hear about your

grandaughter.

By the way, I LOVE Sta. . What a lovely place to live.

Best Wishes,

Anita

> Hi,

>

> Someone posted recently about seeing Dr. Enns at stanford. I

looked

> through the past posts, but couldn't locate it. I don't live too. .

> far from there. (Santa ) I talked with my PCP yesterday

about

> the abnormal mito test results from my grandaughter's autopsy

and he

> agreed (finally) with me that I need to go to someone that really

> knows this disease. He says that is he willing to send me

wherever I

> need to go. But he did leave it up to me to find someone. I

> wondered if you would send me information on Dr. Enns. Is he

someone

> to consider? Is he accepting new patients? I would really

> appreciate any information you could send me.

>

> Thanks,

> Joanne

[Guest guest]

Joanne,

Dr Ennis is accepting new patients and I believe he is seeing adult Mito

patients. He's going to be our guest in the chat on August 23rd.

Here is his information:

Enns, M.B., Ch.B.

Director, Biochemical Genetics Program

Division of Medical Genetics

Stanford University

Stanford, California

GREGORY ENNS, M.B., Ch.B., Asst. Prof. of Pediatrics (Genetics)

Clinical genetics

Metabolic disorders

Mitochondrial and biochemical genetic disorders

Lysosomal storage disorders

M. ENNS, M.D.

Position:

Assistant Professor

Departmental Affiliation(s):

Pediatrics -- Genetics

Email:

greg.enns@...

Keywords:

biochemical genetics, newborn screening, mitochondrial disease, inborn errors of

metabolism

Representative Publication(s):

Enns GM, ez DR, Kuzmin AI, Koch R, Wakeem C, Woo SLC, Eisensmith RC,

Packman S. (1999). Molecular correlations in phenylketonuria: Mutation patterns

and corresponding biochemical and clinical phenotypes in a heterogeneous

California population. Pediatr Res 46:594-602.

Enns GM, Barkovich AJ, Weisiger K, Ohnstad C, Packman S. Progressive

neurological deterioration and MRI changes in cblC methylmalonic acidaemia

treated with hydroxocobalamin. (1999). J Inher Metab Dis 22:599-607.

Enns GM, MJ, Hoppel C, Weisiger C, Ohnstad C, Golabi M, Packman S.

(2000). Respiratory chain complex I deficiency presenting with clinical and

biochemical features of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)

deficiency. J Pediatr 136(2):251-154, 2000.

Westphal V, Enns GM, McCracken M, Freeze H. (2001). Functional analysis of two

new mutations in a congenital disorder of glycosylation (CDG) Ia patient with

mixed Asian ancestry. Mol Genet Metab 73(1):71-6.

Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA,

Packman S. (2001). Clinical course and biochemistry of sialuria. J Inher Metab

Dis 24(3):328-336.

Alice

..