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Academic Journal

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

  • Authors : Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Genetics, Hyderabad, Telangana, India.; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.

Subjects: Mutation*; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*diagnosis ; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2719-30. Date of Electronic Publication: 2016 Jun 24.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Niemann-Pick disease type IS in sibs with 20 years follow up.

  • Authors : Jain MK; Department of Pediatrics, Seth G.S. Medical College, Parel, Bombay.; Gharpure VP

Subjects: Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*genetics; Adolescent ; Adult

  • Source: Indian pediatrics [Indian Pediatr] 1994 Jan; Vol. 31 (1), pp. 48-51.Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print Cited Medium: Print

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Academic Journal

A young child with persistent respiratory symptoms: Think beyond asthma.

Subjects: *NIEMANN-Pick diseases; *DECISION making; *DIAGNOSISINDIA

  • Source: Journal of Postgraduate Medicine. Apr-Jun2017, Vol. 63 Issue 2, p81-83. 3p.

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Academic Journal

Niemann-Pick disease: ultrastructural features.

  • Authors : Shanthi P; Departments of Hematology and Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India.; Varma N

Subjects: Bone Marrow/Bone Marrow/Bone Marrow/*ultrastructure ; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*pathology; Biopsy, Needle

  • Source: Indian pediatrics [Indian Pediatr] 2000 Sep; Vol. 37 (9), pp. 1017-20.Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print Cited Medium: Print

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Academic Journal

Biochemical studies on lipidosis in Indian children.

Subjects: Gangliosidoses/Gangliosidoses/Gangliosidoses/*metabolism ; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*metabolism; Brain/Brain/Brain/metabolism

  • Source: Neurology India [Neurol India] 1978 Sep; Vol. 26 (3), pp. 111-7.Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print Cited Medium:

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Academic Journal

Pick-Niemann's disease. Case report in an Indian Punjabi child.

Subjects: Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*epidemiology; Female ; Humans

  • Source: Indian pediatrics [Indian Pediatr] 1967 Nov; Vol. 4 (11), pp. 418-21.Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print Cited Medium: Print

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Academic Journal

Niemann-Pick Type C Disease.

Subjects: NIEMANN-Pick diseases; FACIAL dyskinesias; GLUCOSIDASESINDIA

  • Source: Indian Pediatrics; Jun2008, Vol. 45 Issue 6, p505-507, 3p, 1 Black and White Photograph

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  • 1-10 of  13 results for ""Niemann-Pick Diseases""