R Matalon|K Michals - JoVE Visualize

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Science (New York, N.Y.)|August 31, 1973

N-acetyl-beta-hexosaminidase: role in the degradation of glycosaminoglycansJ N Thompson, A C Stoolmiller, R Matalon, et al.

European Journal of Pediatrics|July 1, 1996

Nutrition and reproductive outcome in maternal phenylketonuriaK Michals, P B Acosta, V Austin, et al.

American Journal of Diseases of Children (1960)|July 1, 1987

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiencyJ E Wise, R Matalon, A M Morgan, et al.

Journal of Neurochemistry|January 1, 1991

Purification, characterization, and localization of aspartoacylase from bovine brainR Kaul, J Casanova, A B Johnson, et al.

Annals of Clinical and Laboratory Science|May 1, 1982

Keratan and herparan sulfaturia: glucosamine-6-sulfate deficiencyR Matalon, R Wappner, M Deanching, et al.

Indian Journal of Pediatrics|January 1, 1990

Plasma amino acid patterns in very low birth weight infants during parenteral nutritionG Srinivasan, A Amin, R S Pildes, et al.

The Journal of Biological Chemistry|September 3, 1998

A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activationD R Warner, G Weng, S Yu, et al.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2000

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan diseaseP L Rady, J M Penzien, T Vargas, et al.

Archives of Pathology & Laboratory Medicine|September 1, 1983

Hunter' syndrome. Ultrastructural features in young childrenJ V Murphy, A E Hodach, E F Gilbert, et al.

Journal of Investigative Medicine High Impact Case Reports|February 8, 2023

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel <i>SLC6A8</i> Variant Causing a Treatable but Likely Underdiagnosed Genetic DisorderChristina G Tise, Melinda J Palma, Kristina P Cusmano-Ozog, et al.

Pageof 12

Showing results (51-60 of 120) with videos related to

Sort By:

Pageof 12

Science (New York, N.Y.)|August 31, 1973

N-acetyl-beta-hexosaminidase: role in the degradation of glycosaminoglycansJ N Thompson, A C Stoolmiller, R Matalon, et al.

European Journal of Pediatrics|July 1, 1996

Nutrition and reproductive outcome in maternal phenylketonuriaK Michals, P B Acosta, V Austin, et al.

American Journal of Diseases of Children (1960)|July 1, 1987

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiencyJ E Wise, R Matalon, A M Morgan, et al.

Journal of Neurochemistry|January 1, 1991

Purification, characterization, and localization of aspartoacylase from bovine brainR Kaul, J Casanova, A B Johnson, et al.

Annals of Clinical and Laboratory Science|May 1, 1982

Keratan and herparan sulfaturia: glucosamine-6-sulfate deficiencyR Matalon, R Wappner, M Deanching, et al.

Indian Journal of Pediatrics|January 1, 1990

Plasma amino acid patterns in very low birth weight infants during parenteral nutritionG Srinivasan, A Amin, R S Pildes, et al.

The Journal of Biological Chemistry|September 3, 1998

A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activationD R Warner, G Weng, S Yu, et al.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2000

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan diseaseP L Rady, J M Penzien, T Vargas, et al.

Archives of Pathology & Laboratory Medicine|September 1, 1983

Hunter' syndrome. Ultrastructural features in young childrenJ V Murphy, A E Hodach, E F Gilbert, et al.

Journal of Investigative Medicine High Impact Case Reports|February 8, 2023

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel <i>SLC6A8</i> Variant Causing a Treatable but Likely Underdiagnosed Genetic DisorderChristina G Tise, Melinda J Palma, Kristina P Cusmano-Ozog, et al.

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