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Glycogen Storage Disease Type IXb in a 3-y-old Child

Indian journal of pediatrics, 2024, Vol.91 (1), p.100-100

2024

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Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Clinical genetics, 2021-11, Vol.100 (5), p.542-550

2021

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Extrapontine Myelinolysis in a Child With Nephrotic Syndrome

Pediatric neurology, 2010-08, Vol.43 (2), p.139-141

2010

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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

Indian journal of medical research (New Delhi, India : 1994), 2015-10, Vol.142 (4), p.414-425

2015

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Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia

Indian journal of pediatrics, 2014-07, Vol.81 (7), p.702-704

2014

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Left Ventricular Failure due to a Rare Variant of Congenital Adrenal Hyperplasia

Indian journal of pediatrics, 2012-09, Vol.79 (9), p.1241-1243

2012

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Are Indian Parents of Children with Down Syndrome Engaged in the Blame Game?

Indian journal of pediatrics, 2013-07, Vol.80 (7), p.560-564

2013

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Diagnostic practice for organic acidemias: barriers to early diagnosis

Archives of disease in childhood, 2008-11, Vol.93 (11), p.1000-1000

2008

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Human Immunodeficiency Virus (HIV) Infection in a Child Presenting as Acute Disseminated Encephalomyelitis

Journal of child neurology, 2011-01, Vol.26 (1), p.99-102

2011

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Anterior Sacral Pyocele With Meningitis: A Rare Presentation of Occult Spinal Dysraphism With Congenital Dermal Sinus

Journal of child neurology, 2010-11, Vol.25 (11), p.1393-1397

2010

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Down syndrome:: Clinical profile from India

Archives of medical research, 2004, Vol.35 (1), p.31-35

2004

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Mycotic aneurysm: An uncommon cause for intra-cranial hemorrhage

Indian journal of pediatrics, 2002-10, Vol.69 (10), p.905-907

2002

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Anticonvulsant hypersensitivity syndrome: lymphocyte toxicity assay for the confirmation of diagnosis and risk assessment

The Annals of pharmacotherapy, 2004-10, Vol.38 (10), p.1648

2004

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Measles encephalitis: A report of two cases with variable manifestations

Pediatrics international, 2002-02, Vol.44 (1), p.90-92

2002

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Psychological consequences in pediatric intensive care unit survivors: the neglected outcome

Indian pediatrics, 2008-02, Vol.45 (2), p.99-103

2008

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Candida tropicalis endocarditis: Treatment in a resource-poor setting

Annals of pediatric cardiology, 2010-07, Vol.3 (2), p.174-177

2010

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A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly

American journal of medical genetics, 2004-01, Vol.124A (2), p.200-201

2004

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Rabson-Mendenhall syndrome

Indian journal of medical sciences, 2005-02, Vol.59 (2), p.70-73

2005

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Kocher-Debre-Semelaigne syndrome: Hypothyroidism with muscle pseudohypertrophy

Indian journal of pediatrics, 2003-08, Vol.70 (8), p.671-673

2003

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Recurrent acute transverse myelopathy: Association with Antiphospholipid Antibody Syndrome

Indian journal of pediatrics, 2004-06, Vol.71 (6), p.559-561

2004

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Incomplete monosymptomatic leptomeningeal angiomatosis

Indian journal of pediatrics, 2004-10, Vol.71 (10), p.947-947

2004

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Wolman disease : Diagnosis by leucocyte acid lipase estimation

Indian journal of pediatrics, 2005-04, Vol.72 (4), p.353-354

2005

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Effect of deferiprone on urinary zinc excretion in multiply transfused children with thalassemia major

Indian pediatrics, 2005-02, Vol.42 (2), p.150-154

2005

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Trisomy 21 with XYY

Indian journal of pediatrics, 2002-11, Vol.69 (11), p.979-981

2002

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Clinical features of organic acidemias: Experience at a tertiary care center in mumbai

Indian pediatrics, 2001-05, Vol.38 (5), p.518-524

2001

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Glycogen Storage Disease Type IXb in a 3-y-old Child

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Extrapontine Myelinolysis in a Child With Nephrotic Syndrome

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia

Left Ventricular Failure due to a Rare Variant of Congenital Adrenal Hyperplasia

Are Indian Parents of Children with Down Syndrome Engaged in the Blame Game?

Diagnostic practice for organic acidemias: barriers to early diagnosis

Human Immunodeficiency Virus (HIV) Infection in a Child Presenting as Acute Disseminated Encephalomyelitis

Anterior Sacral Pyocele With Meningitis: A Rare Presentation of Occult Spinal Dysraphism With Congenital Dermal Sinus

Down syndrome:: Clinical profile from India

Mycotic aneurysm: An uncommon cause for intra-cranial hemorrhage

Anticonvulsant hypersensitivity syndrome: lymphocyte toxicity assay for the confirmation of diagnosis and risk assessment

Measles encephalitis: A report of two cases with variable manifestations

Psychological consequences in pediatric intensive care unit survivors: the neglected outcome

Candida tropicalis endocarditis: Treatment in a resource-poor setting

A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly

Rabson-Mendenhall syndrome

Kocher-Debre-Semelaigne syndrome: Hypothyroidism with muscle pseudohypertrophy

Recurrent acute transverse myelopathy: Association with Antiphospholipid Antibody Syndrome

Incomplete monosymptomatic leptomeningeal angiomatosis

Wolman disease : Diagnosis by leucocyte acid lipase estimation

Effect of deferiprone on urinary zinc excretion in multiply transfused children with thalassemia major

Trisomy 21 with XYY

Clinical features of organic acidemias: Experience at a tertiary care center in mumbai

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