Professor, Pediatrics, UCSF School of Medicine
Medical Genetics
Dr. Seymour Packman, MD
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Dr. Seymour Packman works in the field of Medical Genetics. He graduated from Washington University School of Medicine in St. Louis. He over the years received 1 awards: "Super Doctor". Dr. Seymour Packman is a published physician. He published 100 publications, including: 'Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations.'
Publications
- Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
- Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
- Health-Related Quality of Life in Patients with MPS II.
- Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
- MPS II: Adaptive Behavior of Patients and Impact on the Family System.
- Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.
- Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
- Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
- Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
- T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.
- Marinesco-Sjögren syndrome in a male with mild dysmorphism.
- Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.
- Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
- Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
- Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease.
- Psychosocial issues in families affected by maple syrup urine disease.
- Psychosocial aspects of patients with Niemann-Pick disease, type B.
- Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
- Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
- Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease.
- Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
- Psychological aspects of patients with Fabry disease.
- Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
- Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal c...
- Executive functioning in children and adolescents with phenylketonuria.
- Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.
- Galactosaemia: early treatment with an elemental formula.
- Psychological complications of patients with Gaucher disease.
- Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.
- Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
- Periventricular heterotopia associated with chromosome 5p anomalies.
- A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.
- Clinical course and biochemistry of sialuria.
- Hyperammonemia in urea cycle disorders: role of the nephrologist.
- The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
- Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
- Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.
- Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
- Developmental expression of the mouse mottled and toxic milk genes.
- Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations.
- Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.
- Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.
- Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.
- The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
- A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.
- An international symposium on Wilson's and Menkes' diseases.
- Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
- Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.
- Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.
- L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.
- Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome.
- 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase.
- Cellular copper transport.
- Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
- Are X-linked cutis laxa and Menkes disease allelic?
- Dermatitis in treated maple syrup urine disease.
- Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts.
- The mottled gene is the mouse homologue of the Menkes disease gene.
- Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency.
- Diverse mutations in patients with Menkes disease often lead to exon skipping.
- Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
- Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
- Prenatal diagnosis of Menkes disease by mutation analysis.
- Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
- Biotin-responsive multiple carboxylase deficiency of infantile onset.
- The neonatal form of biotin-responsive multiple carboxylase deficiency.
- Deletions of different segments of the long arm of chromosome 4.
- Brain pyruvate carboxylase and the pathophysiology of biotin-dependent diseases.
- Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
- Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
- Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.
- Curious neurologic sequelae in galactosemia.
- Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes' kinky hair syndrome.
- Response to almitrine bismesylate in a child with a central alveolar hypoventilation syndrome.
- Trace metal metabolism in cultured skin fibroblasts of the mottled mouse: response to metallothionein inducers.
- Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease).
- Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes'' kinky hair syndrome.
- Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.
- Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
- Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
- Prenatal treatment of biotin responsive multiple carboxylase deficiency.
- Constitutive lambda DNA replication by lambda-C17, a regulatory mutant related to virulence.
- A comparison of globin genes in duck reticulocytes and liver cells.
- The organization and diversity of immunoglobulin genes.
- Globin gene expression in cultured erythroleukemic cells.
- Organization of immunoglobulin genes: reiteration frequency of the mouse kappa chain constant region gene.
- DNA complementary to globin and immunoglobulin mRNA: a probe to study gene expression.
- Regulated expression of mammalian genes: globin and immunoglobulin as model systems.
- In vitro synthesis of DNA complementary to mRNA derived from a light chain-producing myeloma tumour.
- A distinct variant of intermediate maple syrup urine disease.
- Ocular involvement in Niemann-Pick disease type B.
- Regulation of copper metabolism in the mottled mouse.
- Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.
- Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome.
- Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
- Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.
- Lipid metabolism in biotin-responsive multiple carboxylase deficiency.
- Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
- Hepatic copper metabolism in a mouse model for Menkes' kinky hair syndrome.
Schools
Washington University St Louis
St Louis Chldns Hospital
Yale University School Of Med
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Awards
- Super Doctor
Education
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Washington University - Barnes-Jewish Hospital -
Washington University School of Medicine in St. Louis
Hospital
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San Francisco General Hospital and Trauma Center -
UCSF Medical Center
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