Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Prolactin-Secreting Tumors & Hypogonadism in 22 Men
NEJM 299:847-852, Carter,J.N.,et al, 1978
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992
Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990
Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
Neurol 27:1107-1113, Griffin,J.W.,et al, 1977