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Results: 1-25/33
Authors:
SIMON DK
RODRIGUEZ ML
FROSCH MP
QUACKENBUSH EJ
FESKE SK
NATOWICZ MR
Citation: Dk. Simon et al., A UNIQUE FAMILIAL LEUKODYSTROPHY WITH ADULT-ONSET DEMENTIA AND ABNORMAL GLYCOLIPID STORAGE - A NEW LYSOSOMAL DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 65(2), 1998, pp. 251-254
Authors:
VERKRUYSE LA
NATOWICZ MR
HOFMANN SL
Citation: La. Verkruyse et al., PALMITOYL-PROTEIN THIOESTERASE DEFICIENCY IN FIBROBLASTS OF INDIVIDUALS WITH INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS AND I-CELL DISEASE, Biochimica et biophysica acta. Molecular basis of disease, 1361(1), 1997, pp. 1-5
Authors:
YANO S
FALK RE
NATOWICZ MR
WILLIAMS JC
Citation: S. Yano et al., CASE-OF-THE-MONTH - A 3.5-YEAR-OLD FEMALE WITH DEVELOPMENTAL DELAYS, HEPATOMEGALY, AND COARSE FADES, European journal of pediatrics, 156(8), 1997, pp. 661-663
Authors:
CUNNIFF C
KRATZ LE
MOSER A
NATOWICZ MR
KELLEY RI
Citation: C. Cunniff et al., CLINICAL AND BIOCHEMICAL SPECTRUM OF PATIENTS WITH RSH SMITH-LEMLI-OPITZ SYNDROME AND ABNORMAL CHOLESTEROL-METABOLISM/, American journal of medical genetics, 68(3), 1997, pp. 263-269
Authors:
HILLER EH
LANDENBURGER G
NATOWICZ MR
Citation: Eh. Hiller et al., PUBLIC-PARTICIPATION IN MEDICAL POLICY-MAKING AND THE STATUS OF CONSUMER AUTONOMY - THE EXAMPLE OF NEWBORN-SCREENING PROGRAMS IN THE UNITED-STATES, American journal of public health, 87(8), 1997, pp. 1280-1288
Authors:
AKERMAN BR
NATOWICZ MR
KABACK MM
LOYER M
CAMPEAU E
GRAVEL RA
Citation: Br. Akerman et al., NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE, American journal of human genetics, 60(5), 1997, pp. 1099-1106
Authors:
PRENCE EM
ZALEWSKI I
NATOWICZ MR
Citation: Em. Prence et al., UNUSUAL THERMOLABILITY PROPERTIES OF BETA-HEXOSAMINIDASE - STUDIES OFENZYME FROM CULTURED-CELLS AND CLINICAL IMPLICATIONS, American journal of medical genetics, 65(4), 1996, pp. 320-324
Authors:
ALPER JS
ALPER JK
NATOWICZ MR
Citation: Js. Alper et al., EEOC COMPLIANCE MANUAL FOR THE ADA AND GENETIC DISCRIMINATION, American journal of medical genetics, 61(1), 1996, pp. 95-95
Authors:
CUNNIFF C
KRATZ LE
MOSER A
NATOWICZ MR
KELLEY RI
Citation: C. Cunniff et al., CLINICAL SPECTRUM OF PATIENTS WITH RSH SMITH-LEMLI-OPTIZ SYNDROME/, Pediatric research, 39(4), 1996, pp. 474-474
Authors:
NATOWICZ MR
SHORT MP
WANG Y
DICKERSIN GR
GEBHARDT MC
ROSENTHAL DI
SIMS KB
ROSENBERG AE
Citation: Mr. Natowicz et al., CLINICAL AND BIOCHEMICAL MANIFESTATIONS OF HYALURONIDASE DEFICIENCY, The New England journal of medicine, 335(14), 1996, pp. 1029-1033
Authors:
RODRIGUEZ MI
SIMON DK
QUACKENBUSH EJ
NATOWICZ MR
FROSCH MP
Citation: Mi. Rodriguez et al., ADULT-ONSET LEUKOENCEPHALOPATHY IN 2 SIBLINGS - NEUROPATHOLOGIC AND METABOLIC STUDIES, Journal of neuropathology and experimental neurology, 55(5), 1996, pp. 40-40
Authors:
VANBAEL M
NATOWICZ MR
TOMCZAK J
GREBNER EE
PRENCE EM
Citation: M. Vanbael et al., HETEROZYGOSITY FOR TAY-SACHS-DISEASE IN NON-JEWISH AMERICANS WITH ANCESTRY FROM IRELAND OR GREAT-BRITAIN, Journal of Medical Genetics, 33(10), 1996, pp. 829-832
Authors:
STREET JM
EVANS JE
NATOWICZ MR
Citation: Jm. Street et al., GLUCURONIC ACID-CONJUGATED DIHYDROXY FATTY-ACIDS IN THE URINE OF PATIENTS WITH GENERALIZED PEROXISOMAL DISORDERS, The Journal of biological chemistry, 271(7), 1996, pp. 3507-3516
Authors:
NATOWICZ MR
PRENCE EM
CHATURVEDI P
NEWBURG DS
Citation: Mr. Natowicz et al., URINE SULFATIDES AND THE DIAGNOSIS OF METACHROMATIC LEUKODYSTROPHY, Clinical chemistry, 42(2), 1996, pp. 232-238
Authors:
NATOWICZ MR
WANG Y
Citation: Mr. Natowicz et Y. Wang, HUMAN SERUM HYALURONIDASE - CHARACTERIZATION OF A CLINICAL ASSAY (VOL245, PG 1, 1996), Clinica chimica acta, 255(1), 1996, pp. 91-91
Authors:
PRENCE EM
GLEASON J
NATOWICZ MR
Citation: Em. Prence et al., CHARACTERIZATION OF CLINICAL ASSAYS FOR LEUKOCYTE AND FIBROBLAST ALPHA-N-ACETYLGALACTOSAMINIDASE ACTIVITIES FOR THE DIAGNOSIS OF ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, Clinica chimica acta, 247(1-2), 1996, pp. 167-173
Authors:
NATOWICZ MR
WANG Y
Citation: Mr. Natowicz et Y. Wang, HUMAN SERUM HYALURONIDASE - CHARACTERIZATION OF A CLINICAL ASSAY, Clinica chimica acta, 245(1), 1996, pp. 1-6
Authors:
SQUIRES LA
KRISHNAMOORTHY KS
NATOWICZ MR
Citation: La. Squires et al., DELAYED MYELINATION IN INFANTS AND YOUNG-CHILDREN - RADIOGRAPHIC AND CLINICAL CORRELATES, Journal of child neurology, 10(2), 1995, pp. 100-104
Authors:
PALOMAKI GE
WILLIAMS J
HADDOW JE
NATOWICZ MR
Citation: Ge. Palomaki et al., TAY-SACHS-DISEASE IN PERSONS OF FRENCH-CANADIAN HERITAGE IN NORTHERN NEW-ENGLAND, American journal of medical genetics, 56(4), 1995, pp. 409-412
Authors:
NATOWICZ MR
STOLER JM
PRENCE EM
LISCUM L
Citation: Mr. Natowicz et al., MARKED HETEROGENEITY IN NIEMANN-PICK DISEASE, TYPE-C - CLINICAL AND ULTRASTRUCTURAL FINDINGS, Clinical pediatrics, 34(4), 1995, pp. 190-197
Authors:
TRIGGSRAINE B
RICHARD M
WASEL N
PRENCE EM
NATOWICZ MR
Citation: B. Triggsraine et al., MUTATIONAL ANALYSES OF TAY-SACHS-DISEASE - STUDIES ON TAY-SACHS CARRIERS OF FRENCH-CANADIAN BACKGROUND LIVING IN NEW-ENGLAND, American journal of human genetics, 56(4), 1995, pp. 870-879
Authors:
KAYE EM
DOLL RF
NATOWICZ MR
SMITH FI
Citation: Em. Kaye et al., PELIZAEUS-MERZBACHER DISEASE PRESENTING AS SPINAL MUSCULAR-ATROPHY - CLINICAL AND MOLECULAR STUDIES, Annals of neurology, 36(6), 1994, pp. 916-919
Authors:
ALPER JS
GELLER LN
BARASH CI
BILLINGS PR
LADEN V
NATOWICZ MR
Citation: Js. Alper et al., GENETIC DISCRIMINATION AND SCREENING FOR HEMOCHROMATOSIS, Journal of public health policy, 15(3), 1994, pp. 345-358
Authors:
NATOWICZ MR
EVANS JE
Citation: Mr. Natowicz et Je. Evans, ABNORMAL BILE-ACIDS IN THE SMITH-LEMLI-OPITZ SYNDROME, American journal of medical genetics, 50(4), 1994, pp. 364-367
Authors:
NATOWICZ MR
BEJJANI B
Citation: Mr. Natowicz et B. Bejjani, GENETIC-DISORDERS THAT MASQUERADE AS MULTIPLE-SCLEROSIS, American journal of medical genetics, 49(2), 1994, pp. 149-169